DS-AI Platform

Title	First Author	Journal
Cadherins as Targets for Genetic Diseases	El-Amraoui, Aziz	Cold Spring Harb Perspect Biol
mRNA surveillance and endoplasmic reticulum quality control processes alter biogenesis of mutant GABAA receptor subunits associated with genetic epilepsies	Macdonald, Robert L	Epilepsia
Identification of the benzyloxyphenyl pharmacophore: a structural unit that promotes sodium channel slow inactivation	King, Amber M	ACS Chem Neurosci
Abnormal neuronal patterning occurs during early postnatal brain development of Scn1b-null mice and precedes hyperexcitability	Brackenbury, William J	Proc Natl Acad Sci U S A
Evidence for a shared genetic susceptibility to migraine and epilepsy	Winawer, Melodie R	Epilepsia
Altered sleep regulation in a mouse model of SCN1A-derived genetic epilepsy with febrile seizures plus (GEFS+)	Papale, Ligia A	Epilepsia
Focal Scn1a knockdown induces cognitive impairment without seizures	Bender, Alex C	Neurobiol Dis
Shared cognitive and behavioral impairments in epilepsy and Alzheimer’s disease and potential underlying mechanisms	Chin, Jeannie	Epilepsy Behav
PharmGKB summary: phenytoin pathway	Thorn, Caroline F	Pharmacogenet Genomics
Mutation Screening of the ?-Aminobutyric Acid Type-A Receptor Subunit ?2 Gene in Korean Patients with Childhood Absence Epilepsy	Kim, Young Ok	J Clin Neurol
Cellular interference in craniofrontonasal syndrome: males mosaic for mutations in the X-linked EFNB1 gene are more severely affected than true hemizygotes	Twigg, Stephen R F	Hum Mol Genet
NOVA-dependent regulation of cryptic NMD exons controls synaptic protein levels after seizure	Eom, Taesun	Elife
Phenytoin inhibits the persistent sodium current in neocortical neurons by modifying its inactivation properties	Colombo, Elisa	PLoS One
Effects of ketogenic diet on the clinical and electroencephalographic features of children with drug therapy-resistant epilepsy	Li, Baomin	Exp Ther Med
Ion Channels as Drug Targets in Central Nervous System Disorders	Waszkielewicz, A M	Curr Med Chem
Glyoxalase 1 and its substrate methylglyoxal are novel regulators of seizure susceptibility	Distler, Margaret G	Epilepsia
Synergistic GABA-enhancing therapy against seizures in a mouse model of Dravet syndrome	Oakley, John C	J Pharmacol Exp Ther
Understanding Tremor in Multiple Sclerosis: Prevalence, Pathological Anatomy, and Pharmacological and Surgical Approaches to Treatment	Labiano-Fontcuberta, Andres	Tremor Other Hyperkinet Mov (N Y)
Voltage-Gated Ion Channel Accessory Subunits: Sodium, Potassium, or Both?	Kearney, Jennifer	Epilepsy Curr
How Deactivating an Inhibitor Causes Absence Epilepsy: Validation of a Noble Lie	Gallagher, Martin J	Epilepsy Curr
Update on rufinamide in childhood epilepsy	Coppola, Giangennaro	Neuropsychiatr Dis Treat
Comprehensive Assessment of Serious Adverse Events Following Immunization by Health Care Providers	Williams, S Elizabeth	J Pediatr
Vagus nerve stimulation to augment recovery from severe traumatic brain injury impeding consciousness: a prospective pilot clinical trial	Shi, Chen	Neurol Res
Effects of an epilepsy-causing mutation in the SCN1A sodium channel gene on cocaine-induced seizure susceptibility in mice	Purcell, Ryan H	Psychopharmacology (Berl)
Genes, molecules and patients—Emerging topics to guide clinical pain research	Sikandar, Shafaq	Eur J Pharmacol
Pharmacotherapy of Focal Epilepsy in Children: A Systematic Review of Approved Agents	Arya, Ravindra	CNS Drugs
Visual automated fluorescence electrophoresis provides simultaneous quality, quantity, and molecular weight spectra for genomic DNA from archived neonatal blood spots	Klassen, Tara L	J Mol Diagn
Developmental brain dysfunction: revival and expansion of old concepts based on new genetic evidence	Moreno-De-Luca, Andres	Lancet Neurol
Sudden death in epilepsy: of mice and men	Friedman, Daniel	J Clin Invest
Sudden unexpected death in a mouse model of Dravet syndrome	Kalume, Franck	J Clin Invest
Presence of epilepsy-associated variants in large exome databases	Cherepanova, Natalya S	J Neurogenet
Towards a unified theory of calmodulin regulation (calmodulation) of voltage-gated calcium and sodium channels	Ben-Johny, Manu	Curr Mol Pharmacol
Experimental designs for small randomised clinical trials: an algorithm for choice	Cornu, Catherine	Orphanet J Rare Dis
Voltage-gated sodium channels: Pharmaceutical targets via anticonvulsants to treat epileptic syndromes	Abdelsayed, Mena	Channels (Austin)
Whole genome sequencing identifies SCN2A mutation in monozygotic twins with Ohtahara Syndrome and unique neuropathological findings	Touma, Marlin	Epilepsia
What predicts enduring intractability in children who appear medically intractable in the first 2 years after diagnosis?	Wirrell, Elaine C	Epilepsia
The Distribution of Disease-Associated Copy Number Variants Across Distinct Disorders of Cognitive Development	Pescosolido, Matthew F	J Am Acad Child Adolesc Psychiatry
Mechanisms of epileptogenesis: a convergence on neural circuit dysfunction	Goldberg, Ethan M	Nat Rev Neurosci
CaV 2.1 ablation in cortical interneurons selectively impairs fast-spiking basket cells and causes generalized seizures	Rossignol, Elsa	Ann Neurol
Genetic testing in the epilepsies—Report of the ILAE Genetics Commission	Ottman, Ruth	Epilepsia
Fibroblast Growth Factor Homologous Factors: Evolution, Structure, and Function	Goldfarb, Mitchell	Cytokine Growth Factor Rev
Peripheral nerve injury is accompanied by chronic transcriptome-wide changes in the mouse prefrontal cortex	Alvarado, Sebastian	Mol Pain
A human Dravet syndrome model from patient induced pluripotent stem cells	Higurashi, Norimichi	Mol Brain
Functional maturation of hPSC-derived forebrain interneurons requires an extended timeline and mimics human neural development	Nicholas, Cory R	Cell Stem Cell
Cognitive and Social Impairment in Mouse Models Mirrors Dravet Syndrome	Kearney, Jennifer A	Epilepsy Curr
Dietary Therapies for Epilepsy and Other Neurological Disorders: Highlights of the 3rd International Symposium	Stafstrom, Carl E	Epilepsy Curr
Exome sequencing reveals new causal mutations in children with epileptic encephalopathies	Veeramah, Krishna R	Epilepsia
The safety and tolerability of newer antiepileptic drugs in children and adolescents	Kayani, Saima	J Cent Nerv Syst Dis
Pharmacotherapeutic and Non-Pharmacological Options for Refractory and Difficult-to-Treat Seizures	Mitchell, James W	J Cent Nerv Syst Dis
SCN1A Genetic Test for Dravet Syndrome (Severe Myoclonic Epilepsy of Infancy and its Clinical Subtypes) for use in the Diagnosis, Prognosis, Treatment and Management of Dravet Syndrome	Stenhouse, Susan A R	PLoS Curr
From Acupuncture to Interaction between ?-Opioid Receptors and Na+ Channels: A Potential Pathway to Inhibit Epileptic Hyperexcitability	Chao, Dongman	Evid Based Complement Alternat Med
Therapeutic Hypothermia for Refractory Status Epilepticus in a Child with Malignant Migrating Partial Seizures of Infancy and SCN1A Mutation: A Case Report	Shein, Steven L	Ther Hypothermia Temp Manag
Major channels involved in neuropsychiatric disorders and therapeutic perspectives	Imbrici, Paola	Front Genet
Rescue of easily shocked mutant seizure sensitivity in Drosophila adults	Kroll, Jason R	J Comp Neurol
Sudden unexpected death in epilepsy: fatal post-ictal respiratory and arousal mechanisms	Sowers, Levi P	Respir Physiol Neurobiol
State-Dependent Inhibition of Sodium Channels by Local Anesthetics: A 40-Year Evolution	Wang, G-K	Biochem (Mosc) Suppl Ser A Membr Cell Biol
Trafficking-deficient mutant GABRG2 subunit amount may modify epilepsy phenotype	Kang, Jing-Qiong	Ann Neurol
Neurochemical and Behavioral Features in Genetic Absence Epilepsy and in Acutely Induced Absence Seizures	Bazyan, A S	ISRN Neurol
Altered function of the SCN1A voltage-gated sodium channel leads to gamma-aminobutyric acid-ergic (GABAergic) interneuron abnormalities	Martin, Melinda S	J Biol Chem
The 2010 Revised Classification of Seizures and Epilepsy	Berg, Anne T	Continuum (Minneap Minn)
Management of Childhood Epilepsy	Glauser, Tracy A	Continuum (Minneap Minn)
Dietary Treatment of Intractable Epilepsy	Cervenka, Mackenzie C	Continuum (Minneap Minn)
Genetic testing in children with epilepsy	Wusthoff, Courtney J	Continuum (Minneap Minn)
Evidence for a role of Nav1.6 in facilitating increases in neuronal hyperexcitability during epileptogenesis	Hargus, Nicholas J	J Neurophysiol
Mortality risks in new-onset childhood epilepsy	Berg, Anne T	Pediatrics
Analysis of multiple B-value diffusion-weighted imaging in pediatric acute encephalopathy	Tachibana, Yasuhiko	PLoS One
Prevalence of SCN1A-Related Dravet Syndrome among Children Reported with Seizures following Vaccination: A Population-Based Ten-Year Cohort Study	Verbeek, Nienke E	PLoS One
Metabolic Causes of Epileptic Encephalopathy	Yu, Joe Yuezhou	Epilepsy Res Treat
Vagal nerve stimulation for pharmacoresistant epilepsy in children	Hauptman, Jason S	Surg Neurol Int
Genetic variations and associated pathophysiology in the management of epilepsy	Mulley, John C	Appl Clin Genet
Drosophila as a model for intractable epilepsy: gilgamesh suppresses seizures in para(bss1) heterozygote flies	Howlett, Iris C	G3 (Bethesda)
Pathogenesis and new candidate treatments for infantile spasms and early life epileptic encephalopathies: A view from preclinical studies	Galanopoulou, Aristea S	Neurobiol Dis
Neuronal Nicotinic Receptors in Sleep-Related Epilepsy: Studies in Integrative Biology	Becchetti, Andrea	ISRN Biochem
The Epilepsy Phenome/Genome Project	Abou-Khalil, Bassel	Clin Trials
Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease	Cooper, David N	Hum Genet
Dravet syndrome patient-derived neurons suggest a novel epilepsy mechanism	Liu, Yu	Ann Neurol
Somatic mutation, genomic variation, and neurological disease	Poduri, Annapurna	Science
Functional reciprocity between Na+ channel Nav1.6 and beta1 subunits in the coordinated regulation of excitability and neurite outgrowth	Brackenbury, William J	Proc Natl Acad Sci U S A
Epigenetic mechanisms underlying human epileptic disorders and the process of epileptogenesis	Qureshi, Irfan A	Neurobiol Dis
Node of Ranvier disruption as a cause of neurological diseases	Susuki, Keiichiro	ASN Neuro
Low threshold T-type calcium channels as targets for novel epilepsy treatments	Powell, Kim L	Br J Clin Pharmacol
Sudden unexpected death in Dravet syndrome: respiratory and other physiological dysfunctions	Kalume, Franck	Respir Physiol Neurobiol
Linkage between increased nociception and olfaction via a SCN9A haplotype	Heimann, Dirk	PLoS One
Sodium channel dysfunction in intractable childhood epilepsy with generalized tonic-clonic seizures	Rhodes, Thomas H	J Physiol
Issues related to development of new anti-seizure treatments	Wilcox, Karen S	Epilepsia
Issues related to symptomatic and disease-modifying treatments affecting cognitive and neuropsychiatric comorbidities of epilepsy	Brooks-Kayal, Amy R	Epilepsia
Nav1.1 haploinsufficiency in excitatory neurons ameliorates seizure-associated sudden death in a mouse model of Dravet syndrome	Ogiwara, Ikuo	Hum Mol Genet
De novo mutations in the classic epileptic encephalopathies	Allen, Andrew S	Nature
Correlations in timing of sodium channel expression, epilepsy, and sudden death in Dravet syndrome	Cheah, Christine S	Channels (Austin)
Priorities in pediatric epilepsy research: Improving children's futures today	Berg, Anne T	Neurology
Diagnosis and Management of Epileptic Encephalopathies in Children	Jain, Puneet	Epilepsy Res Treat
Evidence-based guideline update: Vagus nerve stimulation for the treatment of epilepsy: Report of the Guideline Development Subcommittee of the American Academy of Neurology	Morris, George L 3rd	Neurology
NaV1.1 channels and epilepsy	Catterall, William A	J Physiol
Mutations in GABAA receptor subunits associated with genetic epilepsies	Macdonald, Robert L	J Physiol
De Novo mutations in GNAO1, encoding a Galphao subunit of heterotrimeric G proteins, cause epileptic encephalopathy	Nakamura, Kazuyuki	Am J Hum Genet
Drug screening in Scn1a zebrafish mutant identifies clemizole as a potential Dravet syndrome treatment	Baraban, Scott C	Nat Commun
Age-specific periictal electroclinical features of generalized tonic-clonic seizures and potential risk of sudden unexpected death in epilepsy (SUDEP)	Freitas, Joel	Epilepsy Behav
Sodium channel SCN8A (Nav1.6): properties and de novo mutations in epileptic encephalopathy and intellectual disability	O'Brien, Janelle E	Front Genet
Channelopathy pathogenesis in autism spectrum disorders	Schmunk, Galina	Front Genet
High-resolution molecular genomic autopsy reveals complex sudden unexpected death in epilepsy risk profile	Klassen, Tara L	Epilepsia
Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1A	Kasperaviciute, Dalia	Brain
Electroencephalogram of Age-Dependent Epileptic Encephalopathies in Infancy and Early Childhood	Wong-Kisiel, Lily C	Epilepsy Res Treat
Managing uncertainty in the context of clubfoot care: exploring the value of uncertainty management theory and the sense of virtual community	Oprescu, Florin	Iowa Orthop J
Paradoxical proepileptic response to NMDA receptor blockade linked to cortical interneuron defect in stargazer mice	Maheshwari, Atul	Front Cell Neurosci
Performance comparison of bench-top next generation sequencers using microdroplet PCR-based enrichment for targeted sequencing in patients with autism spectrum disorder	Koshimizu, Eriko	PLoS One
A new locus on chromosome 22q13.31 linked to recessive genetic epilepsy with febrile seizures plus (GEFS+) in a Tunisian consanguineous family	Belhedi, Nejla	BMC Genet
Nonfunctional NaV1.1 familial hemiplegic migraine mutant transformed into gain of function by partial rescue of folding defects	Cestele, Sandrine	Proc Natl Acad Sci U S A
Neural and physiological responses to a cold pressor challenge in healthy adolescents	Richardson, Heidi L	J Neurosci Res
Paralogue annotation identifies novel pathogenic variants in patients with Brugada syndrome and catecholaminergic polymorphic ventricular tachycardia	Walsh, Roddy	J Med Genet
Scn8a voltage-gated sodium channel mutation alters seizure and anxiety responses to acute stress	Sawyer, Nikki T	Psychoneuroendocrinology
Genomic biomarkers of SUDEP in brain and heart	Glasscock, Edward	Epilepsy Behav
Presynaptic long-term plasticity	Yang, Ying	Front Synaptic Neurosci
Mapping genetic modifiers of survival in a mouse model of Dravet syndrome	Miller, A R	Genes Brain Behav
Altered cardiac electrophysiology and SUDEP in a model of Dravet syndrome	Auerbach, David S	PLoS One
Novel SCN3A variants associated with focal epilepsy in children	Vanoye, Carlos G	Neurobiol Dis
Chemical suppression of defects in mitotic spindle assembly, redox control, and sterol biosynthesis by hydroxyurea	McCulley, Andrew	G3 (Bethesda)
Epileptic Encephalopathies: An Overview	Khan, Sonia	Epilepsy Res Treat
De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome	Suls, Arvid	Am J Hum Genet
Betahydroxybutyrate Suppresses Epileptiform Spikes and Improves Cognition in Alzheimer’s Mouse Model	Newman, JC	Innovation in Aging
Genetics of the epilepsies: where are we and where are we going?	Helbig, Ingo	Curr Opin Neurol
Encephalopathy in children with Dravet syndrome is not a pure consequence of epilepsy	Nabbout, Rima	Orphanet J Rare Dis
Detectable clonal mosaicism in the human genome	Machiela, Mitchell J	Semin Hematol
Immune mechanisms in epileptogenesis	Xu, Dan	Front Cell Neurosci
Febrile temperatures unmask biophysical defects in Nav1.1 epilepsy mutations supportive of seizure initiation	Volkers, Linda	J Gen Physiol
Structural genomic variation in childhood epilepsies with complex phenotypes	Helbig, Ingo	Eur J Hum Genet
Regenerative Medicine for Epilepsy: From Basic Research to Clinical Application	Yasuhara, Takao	Int J Mol Sci
Surgical Treatment of Pediatric Epileptic Encephalopathies	Fridley, J	Epilepsy Res Treat
Does epilepsy in multiplex autism pedigrees define a different subgroup in terms of clinical characteristics and genetic risk?	Amiet, Claire	Mol Autism
Late Breaking Chromosomes	Poot, M	Mol Syndromol
Overexpression of KCNN3 results in sudden cardiac death	Mahida, Saagar	Cardiovasc Res
Crystallographic insights into sodium-channel modulation by the beta4 subunit	Gilchrist, John	Proc Natl Acad Sci U S A
Novel HCN2 mutation contributes to febrile seizures by shifting the channel's kinetics in a temperature-dependent manner	Nakamura, Yuki	PLoS One
Serotonin: The Anti-SuddenDeathAmine?	Richerson, George B	Epilepsy Curr
Issues in Clinical Epileptology: A View from the Bench. A Festschrift in Honor of Philip A. Schwartzkroin, PhD	Stafstrom, Carl E	Epilepsy Curr
Transcriptome profiling in engrailed-2 mutant mice reveals common molecular pathways associated with autism spectrum disorders	Sgado, Paola	Mol Autism
Inflammatory pathways of seizure disorders	Marchi, Nicola	Trends Neurosci
A novel method for detecting uniparental disomy from trio genotypes identifies a significant excess in children with developmental disorders	King, Daniel A	Genome Res
A locus on mouse Ch10 influences susceptibility to limbic seizure severity: fine mapping and in silico candidate gene analysis	Winawer, M R	Genes Brain Behav
Studies on the Pathophysiology and Genetic Basis of Migraine	Gasparini, Claudia F	Curr Genomics
A novel GABRG2 mutation, p.R136*, in a family with GEFS+ and extended phenotypes	Johnston, Ann J	Neurobiol Dis
Zebrafish as an emerging model for studying complex brain disorders	Kalueff, Allan V	Trends Pharmacol Sci
Searching for the Ideal Antiepileptogenic Agent in Experimental Models: Single Treatment Versus Combinatorial Treatment Strategies	White, H Steve	Neurotherapeutics
Strain- and age-dependent hippocampal neuron sodium currents correlate with epilepsy severity in Dravet syndrome mice	Mistry, Akshitkumar M	Neurobiol Dis
The utility of exome sequencing for genetic diagnosis in a familial microcephaly epilepsy syndrome	McDonell, Laura M	BMC Neurol
Febrile seizures	Mewasingh, Leena D	BMJ Clin Evid
Past and Present Definitions of Epileptogenesis and Its Biomarkers	Pitkanen, Asla	Neurotherapeutics
Pathogenesis of Epilepsy: Challenges in Animal Models	Hui Yin, Yow	Iran J Basic Med Sci
Screening of CACNA1A and ATP1A2 genes in hemiplegic migraine: clinical, genetic, and functional studies	Carreno, Oriel	Mol Genet Genomic Med
Functional analysis of a de novo GRIN2A missense mutation associated with early-onset epileptic encephalopathy	Yuan, Hongjie	Nat Commun
Stiripentol for Dravet Syndrome: Is It Worth It?	Kossoff, Eric	Epilepsy Curr
Inherited Channelopathies Associated with Epilepsy	George, Alfred L Jr	Epilepsy Curr
The More, the Better: Modeling Dravet Syndrome With Induced Pluripotent Stem Cell-Derived Neurons	Kearney, Jennifer	Epilepsy Curr
Genetic Biomarkers in Epilepsy	Weber, Yvonne G	Neurotherapeutics
Crystal structure and molecular imaging of the Nav channel beta3 subunit indicates a trimeric assembly	Namadurai, Sivakumar	J Biol Chem
Pathophysiology of epileptic encephalopathies	Lado, Fred A	Epilepsia
Channelopathies	Kim, June-Bum	Korean J Pediatr
SLC25A22 is a novel gene for migrating partial seizures in infancy	Poduri, Annapurna	Ann Neurol
Genetic aspects of autism spectrum disorders: insights from animal models	Banerjee, Swati	Front Cell Neurosci
Genetic testing in the epilepsies —developments and dilemmas	Poduri, Annapurna	Nat Rev Neurol
Zebrafish models for translational neuroscience research: from tank to bedside	Stewart, Adam Michael	Trends Neurosci
A novel trafficking-defective HCN4 mutation is associated with early-onset atrial fibrillation	Macri, Vincenzo	Heart Rhythm
Genetic suppression of transgenic APP rescues Hypersynchronous network activity in a mouse model of Alzeimer's disease	Born, Heather A	J Neurosci
GABRA1 and STXBP1: novel genetic causes of Dravet syndrome	Carvill, Gemma L	Neurology
Stem cells on the brain: modeling neurodevelopmental and neurodegenerative diseases using human iPSCs	Srikanth, Priya	J Neurogenet
Mouse Models of Arrhythmogenic Cardiovascular Disease: Challenges and Opportunities	Nerbonne, Jeanne M	Curr Opin Pharmacol
Nav1.1 modulation by a novel triazole compound attenuates epileptic seizures in rodents	Gilchrist, John	ACS Chem Biol
Identification of both GABAA receptors and voltage-activated Na(+) channels as molecular targets of anticonvulsant alpha-asarone	Wang, Ze-Jun	Front Pharmacol
Enhancement of inhibitory neurotransmission by GABAA receptors having alpha2,3-subunits ameliorates behavioral deficits in a mouse model of autism	Han, Sung	Neuron
Physiological and genetic analysis of multiple sodium channel variants in a model of genetic absence epilepsy	Oliva, M K	Neurobiol Dis
Genetic Epilepsy Syndromes Without Structural Brain Abnormalities: Clinical Features and Experimental Models	Guerrini, Renzo	Neurotherapeutics
Sodium Channel Gene Mutations in Children with GEFS+ and Dravet Syndrome: A Cross Sectional Study	TONEKABONI, Seyed Hassan	Iran J Child Neurol
A variant of KCC2 from patients with febrile seizures impairs neuronal Cl- extrusion and dendritic spine formation	Puskarjov, Martin	EMBO Rep
Severe infantile epileptic encephalopathy due to mutations in PLCB1: expansion of the genotypic and phenotypic disease spectrum	Ngoh, Adeline	Dev Med Child Neurol
iPS cell technologies: significance and applications to CNS regeneration and disease	Okano, Hideyuki	Mol Brain
Role of the hippocampus in Nav1.6 (Scn8a) mediated seizure resistance	Makinson, Christopher D	Neurobiol Dis
Axon initial segments: diverse and dynamic neuronal compartments	Yoshimura, Takeshi	Curr Opin Neurobiol
The challenges and innovations for therapy in children with epilepsy	Wilmshurst, Jo M	Nat Rev Neurol
The sodium channel beta1 subunit mediates outgrowth of neurite-like processes on breast cancer cells and promotes tumour growth and metastasis	Nelson, Michaela	Int J Cancer
The Present and Future of Vagus Nerve Stimulation	Yang, Jeyul	J Korean Neurosurg Soc
Transcriptome analysis of the hippocampus in novel rat model of febrile seizures	Wang, Zhongcheng	PLoS One
Nonconvulsive Status Epilepticus Complicating Epstein-Barr Virus Encephalitis in a Child	Greco, Filippo	Case Rep Pediatr
The Integrative Role of the Sigh in Psychology, Physiology, Pathology, and Neurobiology	Ramirez, Jan-Marino	Prog Brain Res
SUDEP Mechanisms: The pathway to prevention	Massey, Cory A	Nat Rev Neurol
Identification of an Nav1.1 sodium channel (SCN1A) loss-of-function mutation associated with familial simple febrile seizures	Mantegazza, Massimo	Proc Natl Acad Sci U S A
Moving gating charges through the gating pore in a Kv channel voltage sensor	Lacroix, Jerome J	Proc Natl Acad Sci U S A
Ion Channels under the Sun	Abbott, Geoffrey W	Faseb J
Knock-in model of Dravet syndrome reveals a constitutive and conditional reduction in sodium current	Schutte, Ryan J	J Neurophysiol
Patient considerations in the management of focal seizures in children and adolescents	Kenney, Daniel	Adolesc Health Med Ther
Etiology, syndrome diagnosis, and cognition in childhood-onset epilepsy: A population-based study	Sokka, Arja	Epilepsia Open
Copy number variation plays an important role in clinical epilepsy	Olson, Heather	Ann Neurol
Pain as a channelopathy	Raouf, Ramin	J Clin Invest
Launching PCORnet, a national patient-centered clinical research network	Fleurence, Rachael L	J Am Med Inform Assoc
Doing challenging research studies in a patient-centred way: a qualitative study to inform a randomised controlled trial in the paediatric emergency care setting	Woolfall, Kerry	BMJ Open
CHD2 haploinsufficiency is associated with developmental delay, intellectual disability, epilepsy and neurobehavioural problems	Chenier, Sebastien	J Neurodev Disord
Improving molecular diagnosis in epilepsy by a dedicated high-throughput sequencing platform	Della Mina, Erika	Eur J Hum Genet
Antecollis and levodopa-responsive parkinsonism are late features of Dravet syndrome	Fasano, Alfonso	Neurology
Cannabidiol: Pharmacology and potential therapeutic role in epilepsy and other neuropsychiatric disorders	Devinsky, Orrin	Epilepsia
Dietary and medication adjustments to improve seizure control in patients treated with the ketogenic diet	Selter, Jessica H	J Child Neurol
Antiepileptic activity of preferential inhibitors of persistent sodium current	Anderson, Lyndsey L	Epilepsia
ILAE Classification Redux: Ready for Prime Time?	French, Jacqueline A	Epilepsy Curr
Untangling the Dravet Syndrome Seizure Network: The Changing Face of a Rare Genetic Epilepsy	Chopra, Ravi	Epilepsy Curr
The Heat is On: L-type Calcium Channels and Febrile Seizures	Murphy, Geoffrey G	Epilepsy Curr
Of Fish and Men	Patino, Gustavo A	Epilepsy Curr
GABAB receptors in maintenance of neocortical circuit function	Sebe, Joy Y	Exp Neurol
Sudden Unexpected Death in Dravet Syndrome	Kearney, Jennifer	Epilepsy Curr
A novel de novo mutation of SCN8A (Nav1.6) with enhanced channel activation in a child with epileptic encephalopathy	Estacion, Mark	Neurobiol Dis
Sex-specific consequences of early life seizures	Akman, Ozlem	Neurobiol Dis
The genetics of auricular development and malformation: new findings in model systems driving future directions for microtia research	Cox, Timothy C	Eur J Med Genet
Corticosteroid therapy in regressive autism: a retrospective study of effects on the Frequency Modulated Auditory Evoked Response (FMAER), language, and behavior	Duffy, Frank H	BMC Neurol
A genomic copy number variant analysis implicates the MBD5 and HNRNPU genes in Chinese children with infantile spasms and expands the clinical spectrum of 2q23.1 deletion	Du, Xiaonan	BMC Med Genet
Therapeutic Success of the Ketogenic Diet as a Treatment Option for Epilepsy: a Meta-analysis	Li, HF	Iran J Pediatr
Biological and medical applications of a brain-on-a-chip	Pamies, David	Exp Biol Med (Maywood)
Toward Routine Genetics-Based Diagnoses for the Epileptic Encephalopathies	Escayg, Andrew	Epilepsy Curr
All-optical electrophysiology in mammalian neurons using engineered microbial rhodopsins	Hochbaum, Daniel R	Nat Methods
Generation of the SCN1A epilepsy mutation in hiPS cells using the TALEN technique	Chen, Wanjuan	Sci Rep
Seizure reduction with fluoxetine in an adult woman with Dravet syndrome	Meador, Kimford J	Epilepsy Behav Case Rep
Deep Brain Stimulation for the Treatment of Epilepsy: Circuits, Targets, and Trials	Laxpati, Nealen G	Neurotherapeutics
WONOEP appraisal: new genetic approaches to study epilepsy	Rossignol, Elsa	Epilepsia
Genetics of Cognition in Epilepsy	Busch, Robyn M	Epilepsy Behav
Zebrafish models in translational research: tipping the scales toward advancements in human health	Phillips, Jennifer B	Dis Model Mech
Mutations in SCN10A Responsible for a Large Fraction of Brugada Syndrome Cases	Hu, Dan	J Am Coll Cardiol
Sex, epilepsy, and epigenetics	Qureshi, Irfan A	Neurobiol Dis
Harnessing gene expression networks to prioritize candidate epileptic encephalopathy genes	Oliver, Karen L	PLoS One
Impaired excitability of somatostatin- and parvalbumin-expressing cortical interneurons in a mouse model of Dravet syndrome	Tai, Chao	Proc Natl Acad Sci U S A
Function of inhibitory micronetworks is spared by Na+ channel-acting anticonvulsant drugs	Pothmann, Leonie	J Neurosci
ABHD6 blockade exerts antiepileptic activity in PTZ-induced seizures and in spontaneous seizures in R6/2 mice	Naydenov, Alipi V	Neuron
Recent Progress in the Development of New Antiepileptic Drugs with Novel Targets	Belete, Tafere Mulaw	Ann Neurosci
Tau reduction prevents disease in a mouse model of Dravet syndrome	Gheyara, Ania L	Ann Neurol
Next Generation Sequencing and the Future of Genetic Diagnosis	Lohmann, Katja	Neurotherapeutics
Potential Therapeutic Use of the Ketogenic Diet in Autism Spectrum Disorders	Napoli, Eleonora	Front Pediatr
Expanding the Treatment Landscape for Lennox-Gastaut Syndrome: Current and Future Strategies	Strzelczyk, Adam	CNS Drugs
Mutations affecting GABAergic signaling in seizures and epilepsy	Galanopoulou, Aristea S	Pflugers Arch
Dysfunction of the Scn8a voltage-gated sodium channel alters sleep architecture, reduces diurnal corticosterone levels, and enhances spatial memory	Papale, Ligia A	J Biol Chem
Genetic determinants of common epilepsies: a meta-analysis of genome-wide association studies	Epi, KC	Lancet Neurol
Discovering novel neuroactive drugs through high-throughput behavior-based chemical screening in the zebrafish	Bruni, Giancarlo	Front Pharmacol
Genetics of epilepsy: The testimony of twins in the molecular era	Vadlamudi, Lata	Neurology
A novel variant in GABRB2 associated with intellectual disability and epilepsy	Srivastava, Siddharth	Am J Med Genet A
The challenge and promise of anti-epileptic therapy development in animal models	Simonato, Michele	Lancet Neurol
Animal models of absence epilepsies: what do they model and do sex and sex hormones matter?	van Luijtelaar, Gilles	Neurobiol Dis
CNVs in Epilepsy	Mefford, Heather C	Curr Genet Med Rep
SCN1A and Febrile Seizures in Mesial Temporal Epilepsy: An Early Signal to Guide Prognosis and Treatment?	Rossi, Marvin A	Epilepsy Curr
Adenosine Receptors and Epilepsy: Current Evidence and Future Potential	Masino, Susan A	Int Rev Neurobiol
Intervention in the Context of Development: Pathways Toward New Treatments	Veenstra-VanderWeele, Jeremy	Neuropsychopharmacology
Role of the Axonal Initial Segment in Psychiatric Disorders: Function, Dysfunction, and Intervention	Hsu, Wei-Chun Jim	Front Psychiatry
Genetic forms of epilepsies and other paroxysmal disorders	Olson, Heather E	Semin Neurol
Action potential initiation in neocortical inhibitory interneurons	Li, Tun	PLoS Biol
A novel mutation in the sodium channel alpha1 subunit gene in a child with Dravet syndrome in Turkey	Arslan, Mutluay	Neural Regen Res
The ketogenic diet and other dietary treatments for refractory epilepsy in children	Sharma, Suvasini	Ann Indian Acad Neurol
Translating cerebellar Purkinje neuron physiology to progress in dominantly inherited ataxia	Chopra, Ravi	Future Neurol
Convulsive seizures and SUDEP in a mouse model of SCN8A epileptic encephalopathy	Wagnon, Jacy L	Hum Mol Genet
Structural analyses of Ca(2)(+)/CaM interaction with NaV channel C-termini reveal mechanisms of calcium-dependent regulation	Wang, Chaojian	Nat Commun
Glutamatergic neuron-targeted loss of LGI1 epilepsy gene results in seizures	Boillot, Morgane	Brain
The riluzole derivative 2-amino-6-trifluoromethylthio-benzothiazole (SKA-19), a mixed KCa2 activator and NaV blocker, is a potent novel anticonvulsant	Coleman, Nichole	Neurotherapeutics
Genetic background modulates impaired excitability of inhibitory neurons in a mouse model of Dravet syndrome	Rubinstein, Moran	Neurobiol Dis
A practical, simple, and useful method of categorizing interictal EEG features in children	Kim, Se Hee	Neurology
Molecular identity of axonal sodium channels in human cortical pyramidal cells	Tian, Cuiping	Front Cell Neurosci
Postzygotic single-nucleotide mosaicisms in whole-genome sequences of clinically unremarkable individuals	Huang, August Y	Cell Res
Advances on genetic rat models of epilepsy	Serikawa, Tadao	Exp Anim
Seizure-dependent mTOR activation in 5-HT neurons promotes autism-like behaviors in mice	McMahon, John J	Neurobiol Dis
EpilepsyGene: a genetic resource for genes and mutations related to epilepsy	Ran, Xia	Nucleic Acids Res
What is new in paediatric epilepsy?	Camfield, Peter	Paediatr Child Health
Common variants associated with general and MMR vaccine-related febrile seizures	Feenstra, Bjarke	Nat Genet
Cannabidiol: Promise and Pitfalls	Welty, Timothy E	Epilepsy Curr
An epilepsy mutation in the sodium channel SCN1A that decreases channel excitability	Barela, Arthur J	J Neurosci
Genotype & Phenotype of Ohtahara Syndrome–What's SCN2A Got to Do With It? A Clinician's Read	Buchhalter, Jeffrey	Epilepsy Curr
An anadysplasia-like, spontaneously remitting spondylometaphyseal dysplasia secondary to lamin B receptor (LBR) gene mutations: further definition of the phenotypic heterogeneity of LBR-bone dysplasias	Sobreira, Nara	Am J Med Genet A
Minimally Invasive Nasal Depot (MIND) technique for direct BDNF AntagoNAT delivery to the brain	Padmakumar, Smrithi	J Control Release
Single-cell genetic expression of mutant GABAA receptors causing Human genetic epilepsy alters dendritic spine and GABAergic bouton formation in a mutation-specific manner	Lachance-Touchette, Pamela	Front Cell Neurosci
Febrile seizure recurrence reduced by intermittent oral levetiracetam	Hu, Lin-Yan	Ann Clin Transl Neurol
Proceedings: Consideration of Genetics in the Design of Induced Pluripotent Stem Cell-Based Models of Complex Disease	Grieshammer, Uta	Stem Cells Transl Med
A missense mutation of the gene encoding voltage-dependent sodium channel (Nav1.1) confers susceptibility to febrile seizures in rats	Mashimo, Tomoji	J Neurosci
Recessive loss-of-function mutations in AP4S1 cause mild fever-sensitive seizures, developmental delay and spastic paraplegia through loss of AP-4 complex assembly	Hardies, Katia	Hum Mol Genet
Conceptual and practical foundations of patient engagement in research at the patient-centered outcomes research institute	Frank, Lori	Qual Life Res
RNA structures as mediators of neurological diseases and as drug targets	Bernat, Viachaslau	Neuron
Synaptic, transcriptional and chromatin genes disrupted in autism	De Rubeis, Silvia	Nature
A Stability-Indicating HPLC-DAD Method for Determination of Stiripentol: Development, Validation, Kinetics, Structure Elucidation and Application to Commercial Dosage Form	Darwish, Hany W	J Anal Methods Chem
Impaired action potential initiation in GABAergic interneurons causes hyperexcitable networks in an epileptic mouse model carrying a human Na(V)1.1 mutation	Hedrich, Ulrike B S	J Neurosci
More Than a Pore: Ion Channel Signaling Complexes	Lee, Amy	J Neurosci
Characterization of a subpopulation of developing cortical interneurons from human iPSCs within serum-free embryoid bodies	Nestor, Michael W	Am J Physiol Cell Physiol
A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy	Muona, Mikko	Nat Genet
A novel de novo STXBP1 mutation is associated with mitochondrial complex I deficiency and late-onset juvenile-onset parkinsonism	Keogh, Michael J	Neurogenetics
The Expanding Spectrum of Neurological Phenotypes in Children With ATP1A3 Mutations, Alternating Hemiplegia of Childhood, Rapid-onset Dystonia-Parkinsonism, CAPOS and Beyond	Sweney, Matthew T	Pediatr Neurol
Licensed pertussis vaccines in the United States. History and current state	Klein, Nicola P	Hum Vaccin Immunother
ESP Abstracts 2013	None	Virchows Arch
Pathogenic EFHC1 mutations are tolerated in healthy individuals dependent on reported ancestry	Subaran, Ryan L	Epilepsia
PRRT2 mutations are related to febrile seizures in epileptic patients	He, Zheng-Wen	Int J Mol Sci
Tau reduction diminishes spatial learning and memory deficits after mild repetitive traumatic brain injury in mice	Cheng, Jason S	PLoS One
Optogenetic feedback control of neural activity	Newman, Jonathan P	Elife
Novel Deletion of SERPINF1 Causes Autosomal Recessive Osteogenesis Imperfecta Type VI in Two Brazilian Families	Minillo, Renata Moldenhauer	Mol Syndromol
A new look at sodium channel ? subunits	Namadurai, Sivakumar	Open Biol
Chromodomain Helicase DNA-Binding Proteins in Stem Cells and Human Developmental Diseases	Micucci, Joseph A	Stem Cells Dev
The phenotypic spectrum of SCN8A encephalopathy	Larsen, Jan	Neurology
Natural antisense transcripts as therapeutic targets	Halley, Paul	Drug Discov Today Ther Strateg
Epilepsy-induced electrocardiographic alterations following cardiac ischemia and reperfusion in rats	Tavares, J G P	Braz J Med Biol Res
Inflammation and Epilepsy in the Developing Brain: Clinical and Experimental Evidence	Dupuis, Nina	CNS Neurosci Ther
Acute respiratory distress syndrome in a child with severe epileptic disorder treated successfully by extracorporeal membrane oxygenation: a case report	Nosaka, Nobuyuki	BMC Pediatr
Systems genetics identifies Sestrin 3 as a regulator of a proconvulsant gene network in human epileptic hippocampus	Johnson, Michael R	Nat Commun
The Therapeutic Potential of Cannabinoids for Movement Disorders	Kluger, Benzi	Mov Disord
Evaluation of nutritional status in children with refractory epilepsy	Bertoli, S	Nutr J
Seizure control in a patient with Dravet syndrome and cystic fibrosis?	Schmalbach, Barbara	Epilepsy Behav Case Rep
Sodium channel ? subunits: emerging targets in channelopathies	O'Malley, Heather A	Annu Rev Physiol
CHD2 myoclonic encephalopathy is frequently associated with self-induced seizures	Thomas, Rhys H	Neurology
HCN1 Gain-Of-Function Mutations – A New Cause of Epileptic Encephalopathy	Poduri, Annapurna	Epilepsy Curr
“It Was the Interneuron With the Parvalbumin in the Hippocampus!” “No, It Was the Pyramidal Cell With the Glutamate in the Cortex!” Searching for Clues to the Mechanism of Dravet Syndrome – The Plot Thickens	Isom, Lori L	Epilepsy Curr
Double Trouble: Impairment of Two Interneuron Types in a Dravet Mouse Model	Kearney, Jennifer A	Epilepsy Curr
Complex Genetic Interactions in a Mouse Model of Absence Epilepsy	Goldin, Alan L	Epilepsy Curr
Myoclonic status epilepticus in six patients without epilepsy?	Baysal Kirac, Leyla	Epilepsy Behav Case Rep
Investigating the genetic basis of fever-associated syndromic epilepsies using copy number variation analysis	Hartmann, Corinna	Epilepsia
Allosteric Modulators of Sigma-1 Receptor: A Review	Vavers, Edijs	Front Pharmacol
RING finger protein 121 facilitates the degradation and membrane localization of voltage-gated sodium channels	Ogino, Kazutoyo	Proc Natl Acad Sci U S A
Defective fast inactivation recovery of Nav 1.4 in congenital myasthenic syndrome	Arnold, W David	Ann Neurol
Beyond the hammer and the scalpel: selective circuit control for the epilepsies	Krook-Magnuson, Esther	Nat Neurosci
Pathway-driven discovery of epilepsy genes	Noebels, Jeffrey	Nat Neurosci
Microcircuits and their interactions in epilepsy: is the focus out of focus?	Paz, Jeanne T	Nat Neurosci
Reprogramming patient-derived cells to study the epilepsies	Parent, Jack M	Nat Neurosci
Molecular mechanisms of epilepsy	Staley, Kevin	Nat Neurosci
Treatment of cardiac arrhythmias in a mouse model of Rett syndrome with Na+-channel-blocking antiepileptic drugs	Herrera, Jose A	Dis Model Mech
Interpretation of mRNA splicing mutations in genetic disease: review of the literature and guidelines for information-theoretical analysis	Caminsky, Natasha	F1000Res
De novo gain-of-function and loss-of-function mutations of SCN8A in patients with intellectual disabilities and epilepsy	Blanchard, Maxime G	J Med Genet
Status Epilepticus and Refractory Status Epilepticus Management	Abend, Nicholas S	Semin Pediatr Neurol
Genome-Wide Analyses of Working-Memory Ability: A Review	Knowles, E E M	Curr Behav Neurosci Rep
Clinical utility of neuronal cells directly converted from fibroblasts of patients for neuropsychiatric disorders: studies of lysosomal storage diseases and channelopathy	Kano, S	Curr Mol Med
Whole exome sequencing of suspected mitochondrial patients in clinical practice	Wortmann, Saskia B	J Inherit Metab Dis
Mutations at opposite ends of the DIII/S4-S5 linker of sodium channel Na V 1.7 produce distinct pain disorders	Cheng, Xiaoyang	Mol Pain
Is Epilepsy a Preventable Disorder? New Evidence from Animal Models	Giblin, Kathryn A	Neuroscientist
Single-channel properties of human NaV1.1 and mechanism of channel dysfunction in SCN1A-associated epilepsy	Vanoye, Carlos G	J Gen Physiol
Connectivity-based fixel enhancement: Whole-brain statistical analysis of diffusion MRI measures in the presence of crossing fibres	Raffelt, David A	Neuroimage
Substantial and sustained seizure reduction with ketogenic diet in a patient with Ohtahara syndrome	Sivaraju, Adithya	Epilepsy Behav Case Rep
De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy	Syrbe, Steffen	Nat Genet
Mechanisms Responsible for Cognitive Impairment in Epilepsy	Lenck-Santini, Pierre-Pascal	Cold Spring Harb Perspect Med
Seizures are regulated by ubiquitin-specific peptidase 9 X-linked (USP9X), a de-ubiquitinase	Paemka, Lily	PLoS Genet
Sleep impairment and reduced interneuron excitability in a mouse model of Dravet Syndrome	Kalume, Franck	Neurobiol Dis
Scn1b deletion leads to increased tetrodotoxin-sensitive sodium current, altered intracellular calcium homeostasis and arrhythmias in murine hearts	Lin, Xianming	J Physiol
A methodological framework for drug development in rare diseases	Nony, Patrice	Orphanet J Rare Dis
Workshop on Neurobiology of Epilepsy: Molecular and cellular imaging in epilepsy	Lillis, Kyle P	Epilepsia
CHD2 variants are a risk factor for photosensitivity in epilepsy	Galizia, Elizabeth C	Brain
A Case Report of a 5-Year-Old Girl with Self-Limited Epilepsy with Autonomic Seizures	Katsaras, Georgios	Pediatr Rep
Ketogenic Diet in Epileptic Encephalopathies	Sharma, Suvasini	Epilepsy Res Treat
Update on the implication of potassium channels in autism: K+ channelautism spectrum disorder	Guglielmi, Luca	Front Cell Neurosci
Medicinal chemistry of cannabinoids	Vemuri, V Kiran	Clin Pharmacol Ther
Subacute Sclerosing Panencephalitis in a Child with Recurrent Febrile Seizures	Kartal, Ayse	Case Rep Pediatr
Long-Term Continuous Suppression With Once-Yearly Histrelin Subcutaneous Implants for the Treatment of Central Precocious Puberty: A Final Report of a Phase 3 Multicenter Trial	Silverman, Lawrence A	J Clin Endocrinol Metab
Exclusion of Progressive Brain Disorders of Childhood for a Cerebral Palsy Monitoring System: A Public Health Perspective	Olney, Richard S	J Registry Manag
Dysfunctional HCN ion channels in neurological diseases	DiFrancesco, Jacopo C	Front Cell Neurosci
Quality improvement in neurology: Epilepsy Update Quality Measurement Set	Fountain, Nathan B	Neurology
Retention rates of rufinamide in pediatric epilepsy patients with and without Lennox-Gastaut Syndrome	Kessler, Sudha Kilaru	Epilepsy Res
Whole-Exome Sequencing in the Clinic: Lessons from Six Consecutive Cases from the Clinician's Perspective	Volk, Amber	Mol Syndromol
Methods and utility of EEG-fMRI in epilepsy	van Graan, Louis Andre	Quant Imaging Med Surg
Spreading depolarization in the brainstem mediates sudden cardiorespiratory arrest in mouse SUDEP models	Aiba, Isamu	Sci Transl Med
The genetic basis for inherited forms of sinoatrial dysfunction and atrioventricular node dysfunction	Milanesi, Raffaella	J Interv Card Electrophysiol
Mutations in the GABA Transporter SLC6A1 Cause Epilepsy with Myoclonic-Atonic Seizures	Carvill, Gemma L	Am J Hum Genet
Epileptic syndromes: From clinic to genetic	Tafakhori, Abbas	Iran J Neurol
Channelopathies of skeletal muscle excitability	Cannon, Stephen C	Compr Physiol
Paradoxical exacerbation of myoclonic-astatic seizures by levetiracetam in myoclonic astatic epilepsy	Makke, Yamane	BMC Pediatr
Weeding out bad waves: towards selective cannabinoid circuit control in epilepsy	Soltesz, Ivan	Nat Rev Neurosci
Autism Spectrum Disorder and Epilepsy: disorders with a shared biology	Lee, Bo Hoon	Epilepsy Behav
Short-lasting unilateral neuralgiform headache attacks with ispilateral facial flushing is a new variant of paroxysmal extreme pain disorder	Imai, Noboru	J Headache Pain
Ionotropic GABA and Glutamate Receptor Mutations and Human Neurologic Diseases	Yuan, Hongjie	Mol Pharmacol
Cadherins and catenins in dendrite and synapse morphogenesis	Seong, Eunju	Cell Adh Migr
Mutations in Epilepsy and Intellectual Disability Genes in Patients with Features of Rett Syndrome	Olson, Heather E	Am J Med Genet A
Probing disorders of the nervous system using reprogramming approaches	Ichida, Justin K	Embo J
Adversomics: a new paradigm for vaccine safety and design	Whitaker, Jennifer A	Expert Rev Vaccines
From Molecular Circuit Dysfunction to Disease: Case Studies in Epilepsy, Traumatic Brain Injury, and Alzheimer’s Disease	Dulla, Chris G	Neuroscientist
Analysis of mutations in 7 genes associated with neuronal excitability and synaptic transmission in a cohort of children with non-syndromic infantile epileptic encephalopathy	Kwong, Anna Ka-Yee	PLoS One
Coverage of rare disease names in standard terminologies and implications for patients, providers, and research	Fung, Kin Wah	AMIA Annu Symp Proc
Tau reduction prevents Abeta-induced axonal transport deficits by blocking activation of GSK3beta	Vossel, Keith A	J Cell Biol
Pharmacological characterization of an antisense knockdown zebrafish model of Dravet syndrome: inhibition of epileptic seizures by the serotonin agonist fenfluramine	Zhang, Yifan	PLoS One
Community structure analysis of transcriptional networks reveals distinct molecular pathways for early- and late-onset temporal lobe epilepsy with childhood febrile seizures	Moreira-Filho, Carlos Alberto	PLoS One
A unique binding mode of the eukaryotic translation initiation factor 4E for guiding the design of novel peptide inhibitors	Di Marino, Daniele	Protein Sci
Dissecting the phenotypes of Dravet syndrome by gene deletion	Rubinstein, Moran	Brain
Genetic dissection of horizontal cell inhibitory signaling in mice in complete darkness in vivo	Berkowitz, Bruce A	Invest Ophthalmol Vis Sci
Basic Biology and Therapeutic Implications of lncRNA	Khorkova, O	Adv Drug Deliv Rev
Recurrent and Non-Recurrent Mutations of SCN8A in Epileptic Encephalopathy	Wagnon, Jacy L	Front Neurol
Seizures and Epilepsy: An Overview for Neuroscientists	Stafstrom, Carl E	Cold Spring Harb Perspect Med
On the multiple roles of the voltage gated sodium channel ?1 subunit in genetic diseases	Baroni, Debora	Front Pharmacol
Connectivity and circuitry in a dish versus in a brain	Chinchalongporn, Vorapin	Alzheimers Res Ther
The developmental evolution of the seizure phenotype and cortical inhibition in mouse models of juvenile myoclonic epilepsy	Arain, Fazal	Neurobiol Dis
ZC4H2, an XLID gene, is required for the generation of a specific subset of CNS interneurons	May, Melanie	Hum Mol Genet
Cardiac Nav 1.5 is modulated by ubiquitin protein ligase E3 component n-recognin UBR3 and 6	Zhao, Chunxia	J Cell Mol Med
Disruption of Fgf13 causes synaptic excitatory-inhibitory imbalance and genetic epilepsy and febrile seizures plus	Puranam, Ram S	J Neurosci
What is More Harmful, Seizures or Epileptic EEG Abnormalities: Is There any Clinical Data?	Holmes, Gregory L	Epileptic Disord
Safety of lamotrigine in paediatrics: a systematic review	Egunsola, Oluwaseun	BMJ Open
Drosophila Sodium Channel Mutations: Contributions to Seizure-Susceptibility	Kroll, Jason R	Exp Neurol
Amplicon Resequencing Identified Parental Mosaicism for Approximately 10% of de novo SCN1A Mutations in Children with Dravet Syndrome""	Xu, Xiaojing	Hum Mutat
Independent Neuronal Origin of Seizures and Behavioral Comorbidities in an Animal Model of a Severe Childhood Genetic Epileptic Encephalopathy	Asinof, Samuel K	PLoS Genet
Characterization of a novel subtype of hippocampal interneurons that express corticotropin-releasing hormone	Hooper, Andrew	Hippocampus
Prevention of Sudden Death in Patients With Epilepsy	Kolikonda, Murali K	Prim Care Companion CNS Disord
Vagus nerve stimulation for refractory epilepsy: experience from Saudi Arabia	Al-Said, Youssef	Ann Saudi Med
The Nav channel bench series: Plasmid preparation?	Feldman, Daniel H	MethodsX
Cannabinoids and Tremor Induced by Motor-related Disorders: Friend or Foe?	Arjmand, Shokouh	Neurotherapeutics
Lennox-Gastaut syndrome: Management update	Al-Banji, Muradi H	Neurosciences (Riyadh)
Surpassing the Target: How a Recruitment Campaign Transformed the Participant Accrual Trajectory in the Epilepsy Phenome/Genome Project	McGovern, Kathleen	Clin Transl Sci
Zebrafish needle EMG: a new tool for high-throughput drug screens	Cho, Sung-Joon	J Neurophysiol
Human Nav1.6 Channels Generate Larger Resurgent Currents than Human Nav1.1 Channels, but the Navbeta4 Peptide Does Not Protect Either Isoform from Use-Dependent Reduction	Patel, Reesha R	PLoS One
FOXG1-Dependent Dysregulation of GABA/Glutamate Neuron Differentiation in Autism Spectrum Disorders	Mariani, Jessica	Cell
Genetics and genomics of autism spectrum disorder: embracing complexity	De Rubeis, Silvia	Hum Mol Genet
Tau post-translational modifications in wild-type and human amyloid precursor protein transgenic mice	Morris, Meaghan	Nat Neurosci
Genome-wide copy number variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsies	Mefford, Heather C	PLoS Genet
Dravet in the Dish: Mechanisms of Hyperexcitability	Boison, Detlev	Epilepsy Curr
Analysis of exome sequence in 604 trios for recessive genotypes in schizophrenia	Rees, E	Transl Psychiatry
Restored Physiology in Protein-Deficient Yeast by a Small Molecule Channel	Cioffi, Alexander G	J Am Chem Soc
Prioritizing the Development of Mouse Models for Childhood Brain Disorders	Ogden, Kevin K	Neuropharmacology
Cannabinoids: is there a potential treatment role in epilepsy?	Blair, Robert E	Expert Opin Pharmacother
Molecular pathophysiology and pharmacology of the voltage-sensing module of neuronal ion channels	Miceli, Francesco	Front Cell Neurosci
Severe myoclonic epilepsy of infancy: Seizure reduction during adjunctive eslicarbazepine in two cases?	Buoni, Sabrina	Epilepsy Behav Case Rep
Importance of being Nernst: Synaptic activity and functional relevance in stem cell-derived neurons	Bradford, Aaron B	World J Stem Cells
Remarkable Phenytoin Sensitivity in 4 Children with SCN8A-related Epilepsy: A Molecular Neuropharmacological Approach	Boerma, Ragna S	Neurotherapeutics
Clinical perspectives on medical marijuana (cannabis) for neurologic disorders	Fife, Terry D	Neurol Clin Pract
MicroRNA-9 induces defective trafficking of Nav1.1 and Nav1.2 by targeting Navbeta2 protein coding region in rat with chronic brain hypoperfusion	Sun, Li-Hua	Mol Neurodegener
Nanoemulsions as novel oral carriers of stiripentol: insights into the protective effect and absorption enhancement	Lu, Rong	Int J Nanomedicine
Molecular Targets of Cannabidiol in Neurological Disorders	Ibeas Bih, Clementino	Neurotherapeutics
Abnormalities of serotonergic neurotransmission in animal models of SUDEP	Feng, Hua-Jun	Epilepsy Behav
Cannabinoids and Epilepsy	Rosenberg, Evan C	Neurotherapeutics
Clinical Impact and Cost-Effectiveness of Whole Exome Sequencing as a Diagnostic Tool: A Pediatric Center's Experience	Valencia, C Alexander	Front Pediatr
Appropriate prescription of epinephrine remains the best available treatment	Abay, J.	Arch Dis Child
Excitatory/Inhibitory Balance and Circuit Homeostasis in Autism Spectrum Disorders	Nelson, Sacha B	Neuron
SCN2A encephalopathy: A major cause of epilepsy of infancy with migrating focal seizures	Howell, Katherine B	Neurology
Lessons Learned From Making and Implementing Vaccine Recommendations in the U.S	Walton, L Reed	Am J Prev Med
Faulty cardiac repolarization reserve in alternating hemiplegia of childhood broadens the phenotype	Jaffer, Fatima	Brain
Audit of practice in sudden unexpected death in epilepsy (SUDEP) post mortems and neuropathological findings	Thom, Maria	Neuropathol Appl Neurobiol
E-Cigarettes: A Review of New Trends in Cannabis Use	Giroud, Christian	Int J Environ Res Public Health
Genetics of Epilepsy in Clinical Practice	Berkovic, Samuel F	Epilepsy Curr
Clinical Genetic Testing in Epilepsy	Mefford, Heather C	Epilepsy Curr
One Mutation Deserves Another in the Quest for Antiepileptogenesis	Smith, Bret N	Epilepsy Curr
Using Patient-Derived Induced Pluripotent Stem Cells to Model and Treat Epilepsies	Du, Xixi	Curr Neurol Neurosci Rep
Phenotypic and imaging features of FLNA-negative patients with bilateral periventricular nodular heterotopia and epilepsy	Fallil, Zianka	Epilepsy Behav
Disruption of Endocytosis with the Dynamin Mutant shibirets1 Suppresses Seizures in Drosophila	Kroll, Jason R	Genetics
Benefits of extending and adjusting the level of difficulty on computerized cognitive training for children with intellectual disabilities	Ottersen, Jon	Front Psychol
Exaggerated Nighttime Sleep and Defective Sleep Homeostasis in a Drosophila Knock-In Model of Human Epilepsy	Petruccelli, Emily	PLoS One
Exciting Cells: Modeling Genetic Epilepsies with Patient-Derived Induced Pluripotent Stem Cells	Tidball, Andrew M	Stem Cells
Antiepileptic Drug Treatment in Children with Epilepsy	Rosati, Anna	CNS Drugs
Behavioral phenotypes of genetic mouse models of autism	Kazdoba, T M	Genes Brain Behav
An Scn1a epilepsy mutation in Scn8a alters seizure susceptibility and behavior	Makinson, Christopher D	Exp Neurol
A Road Map for Precision Medicine in the Epilepsies	Epi, PMC	Lancet Neurol
Focal Cortical Dysplasia	Crino, Peter B	Semin Neurol
Excitability governs neural development in a hippocampal region-specific manner	Johnson-Venkatesh, Erin M	Development
The impact of CFNS-causing EFNB1 mutations on ephrin-B1 function	Makarov, Roman	BMC Med Genet
Chemical screening in zebrafish for novel biological and therapeutic discovery	Wiley, D S	Methods Cell Biol
Microdeletions in 9q33.3-q34.11 in five patients with intellectual disability, microcephaly, and seizures of incomplete penetrance: is STXBP1 not the only causative gene?	Ehret, Julia K	Mol Cytogenet
Delivery of epilepsy care to adults with intellectual and developmental disabilities	Devinsky, Orrin	Neurology
SCN4A pore mutation pathogenetically contributes to autosomal dominant essential tremor and may increase susceptibility to epilepsy	Bergareche, Alberto	Hum Mol Genet
Incidence of Dravet Syndrome in a US Population	Wu, Yvonne W	Pediatrics
Pediatric anti-Hu–associated encephalitis with clinical features of Rasmussen encephalitis	Aravamuthan, Bhooma R	Neurol Neuroimmunol Neuroinflamm
Genome Engineering: Drosophila melanogaster and beyond	Venken, Koen J T	Wiley Interdiscip Rev Dev Biol
Fermenting Seizures With Lactate Dehydrogenase	Gano, Lindsey B	Epilepsy Curr
Large-Scale Phenotype-Based Antiepileptic Drug Screening in a Zebrafish Model of Dravet Syndrome	Dinday, Matthew T	eNeuro
Determination of the Optimal Concentration of Valproic Acid in Patients with Epilepsy: A Population Pharmacokinetic-Pharmacodynamic Analysis	Nakashima, Hiroo	PLoS One
Research Progress on the Role of ABC Transporters in the Drug Resistance Mechanism of Intractable Epilepsy	Xiong, Jie	Biomed Res Int
Sudden unexpected death in epilepsy: Identifying risk and preventing mortality	Lhatoo, Samden	Epilepsia
Genome-wide Polygenic Burden of Rare Deleterious Variants in Sudden Unexpected Death in Epilepsy	Leu, Costin	EBioMedicine
Early Rescue of Interneuron Disease Trajectory in Developmental Epilepsies	Siehr, Meagan S	Curr Opin Neurobiol
Surgical treatment for refractory epileptic spasms: The Detroit series	Chugani, Harry T	Epilepsia
Single-Gene Determinants of Epilepsy Comorbidity	Noebels, Jeffrey L	Cold Spring Harb Perspect Med
Evaluation of the neuroactive steroid ganaxolone on social and repetitive behaviors in the BTBR mouse model of autism	Kazdoba, Tatiana M	Psychopharmacology (Berl)
Characterization of maturation of neuronal voltage-gated sodium channels SCN1A and SCN8A in rat myocardium	Krause, Ulrich	Mol Cell Pediatr
Genetic Variants in Absence Epilepsy: A Contextual Consideration of Calcium Current Kinetics	Lagrange, Andre	Epilepsy Curr
Gene Mutation Analysis in 253 Chinese Children with Unexplained Epilepsy and Intellectual/Developmental Disabilities	Zhang, Yujia	PLoS One
Controlling the Regional Identity of hPSC-Derived Neurons to Uncover Neuronal Subtype Specificity of Neurological Disease Phenotypes	Imaizumi, Kent	Stem Cell Reports
Precision Medicine: SCN8A Encephalopathy Treated with Sodium Channel Blockers	Moller, Rikke S	Neurotherapeutics
Polymorphic Variants of SCN1A and EPHX1 Influence Plasma Carbamazepine Concentration, Metabolism and Pharmacoresistance in a Population of Kosovar Albanian Epileptic Patients	Daci, Armond	PLoS One
Genetic neurological channelopathies: molecular genetics and clinical phenotypes	Spillane, J	J Neurol Neurosurg Psychiatry
The sweet side of RNA regulation: glyceraldehyde-3-phosphate dehydrogenase as a noncanonical RNA-binding protein	White, Michael R	Wiley Interdiscip Rev RNA
Correspondence between Resting-State Activity and Brain Gene Expression	Wang, Guang-Zhong	Neuron
Variants in KCNJ11 and BAD do not predict response to ketogenic dietary therapies for epilepsy	Schoeler, Natasha E	Epilepsy Res
Low-dose fenfluramine in the treatment of neurologic disorders: experience in Dravet syndrome	Schoonjans, An-Sofie	Ther Adv Neurol Disord
Lessons learned from gene identification studies in Mendelian epilepsy disorders	Hardies, Katia	Eur J Hum Genet
Seizure control by decanoic acid through direct AMPA receptor inhibition	Chang, Pishan	Brain
Simultaneous impairment of neuronal and metabolic function of mutated gephyrin in a patient with epileptic encephalopathy	Dejanovic, Borislav	EMBO Mol Med
Mouse models of human PIK3CA-related brain overgrowth have acutely treatable epilepsy	Roy, Achira	Elife
Vaccination Triggers, Rather Than Causes, Seizures	Scheffer, Ingrid E	Epilepsy Curr
Watch Out, No Brakes! Impaired Inhibition Results in Hyperexcitable Networks	Thompson, Christopher H	Epilepsy Curr
Neonatal and Infantile Epilepsy: Acquired and Genetic Models	Galanopoulou, Aristea S	Cold Spring Harb Perspect Med
Targeted DNA Sequencing from Autism Spectrum Disorder Brains Implicates Multiple Genetic Mechanisms	D'Gama, Alissa M	Neuron
Structural connectivity of the anterior cingulate in children with unilateral cerebral palsy due to white matter lesions	Scheck, Simon M	Neuroimage Clin
Rates and Predictors of Seizure Freedom With Vagus Nerve Stimulation for Intractable Epilepsy	Englot, Dario J	Neurosurgery
Neuroprotective and disease-modifying effects of the ketogenic diet	Gasior, Maciej	Behav Pharmacol
Loss of synaptic Zn2+ transporter function increases risk of febrile seizures	Hildebrand, Michael S	Sci Rep
Analysis of Zebrafish Larvae Skeletal Muscle Integrity with Evans Blue Dye	Smith, Sarah J	J Vis Exp
The Therapeutic Aspects of the Endocannabinoid System (ECS) for Cancer and their Development: From Nature to Laboratory	Khan, Mohammed I	Curr Pharm Des
Hlf is a genetic modifier of epilepsy caused by voltage-gated sodium channel mutations	Hawkins, Nicole A	Epilepsy Res
Shift in interictal relative gamma power as a novel biomarker for drug response in two mouse models of absence epilepsy	Maheshwari, Atul	Epilepsia
Recognizing and preventing epilepsy-related mortality: A call for action	Devinsky, Orrin	Neurology
Transcranial Magnetic Stimulation for Status Epilepticus	Zeiler, F A	Epilepsy Res Treat
Functional implications of axon initial segment cytoskeletal disruption in stroke	Stoler, Ohad	Acta Pharmacol Sin
Febrile Seizures and Febrile Seizure Syndromes: An Updated Overview of Old and Current Knowledge	Khair, Abdulhafeez M	Neurol Res Int
Acromelic frontonasal dysostosis and ZSWIM6 mutation: phenotypic spectrum and mosaicism	Twigg, S R F	Clin Genet
Mosaic mutations in early-onset genetic diseases	Halvorsen, Matt	Genet Med
Cannabidiol as an Adjunct to Botulinum Toxin in Blepharospasm - A Randomized Pilot Study	Silkiss, Rona Z	Translational Vision Science & Technology
CRISPR/Cas9 facilitates investigation of neural circuit disease using human iPSCs: mechanism of epilepsy caused by an SCN1A loss-of-function mutation	Liu, J	Transl Psychiatry
Ten Years after the International Committee of Medical Journal Editors' Clinical Trial Registration Initiative, One Quarter of Phase 3 Pediatric Epilepsy Clinical Trials Still Remain Unpublished: A Cross Sectional Analysis	Lampert, Anette	PLoS One
Simultaneous Electroencephalography and Functional Magnetic Resonance Imaging and the Identification of Epileptic Networks in Children	Maloney, Thomas C	J Pediatr Epilepsy
Chromosomal microarray testing identifies a 4p terminal region associated with seizures in Wolf-Hirschhorn syndrome	Ho, Karen S	J Med Genet
Sudden unexpected death in epilepsy genetics: Molecular diagnostics and prevention	Goldman, Alica M	Epilepsia
Normal Molecular Specification and Neurodegenerative Disease-Like Death of Spinal Neurons Lacking the SNARE-Associated Synaptic Protein Munc18-1	Law, Chris	J Neurosci
A review on the syntheses of Dronabinol and Epidiolex as classical cannabinoids with various biological activities including those against SARS-COV2	Un8iw	Journal of the Iranian Chemical Society
Early-onset familial hemiplegic migraine due to a novel SCN1A mutation	Fan, Chunxiang	Cephalalgia
Potentially diagnostic electron paramagnetic resonance spectra elucidate the underlying mechanism of mitochondrial dysfunction in the deoxyguanosine kinase deficient rat model of a genetic mitochondrial DNA depletion syndrome	Bennett, Brian	Free Radic Biol Med
The urban myth of the association between neurological disorders and vaccinations""	Gasparini, Roberto	J Prev Med Hyg
Multiplex families with epilepsy: Success of clinical and molecular genetic characterization	Afawi, Zaid	Neurology
Unaltered Network Activity and Interneuronal Firing During Spontaneous Cortical Dynamics In Vivo in a Mouse Model of Severe Myoclonic Epilepsy of Infancy	De Stasi, Angela Michela	Cereb Cortex

Electrophysiology

Pattern	Subpattern	Human	Zebrafish Spontaneous	Zebrafish Induced	Mouse Spontaneous	Mouse Induced
Ictal	Seizure Pattern	0 []	0 []	0 []	0 []	0 []
Ictal	None	0 []	0 []	0 []	0 []	0 []
Interictal	Polyspikes	0 []	0 []	0 []	0 []	0 []
	Sharp Wave	0 []	0 []	0 []	0 []	0 []
	Spike	0 []	0 []	0 []	0 []	0 []
	Slow Activity/Background Slow	0 []	0 []	0 []	0 []	0 []
	Spike and Wave Complex	0 []	0 []	0 []	0 []	0 []
	None	0 []	0 []	0 []	0 []	0 []
Normal	Alpha Rhythm	0 []	0 []	0 []	0 []	0 []
	Beta Rhythm	0 []	0 []	0 []	0 []	0 []
	Delta Rhythm	0 []	0 []	0 []	0 []	0 []
	Theta Rhythm	0 []	0 []	0 []	0 []	0 []
	None	0 []	0 []	0 []	0 []	0 []

Development

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SUDEP

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Drug Responsiveness

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Behavior

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Genetics

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Comorbidities

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Pharmacology

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Seizures

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