Associated Papers
Sodium channel mutation SCN1A T875M, D188V and associated dysfunction with drug resistant epilepsy.
Dabla PK et al.
World Journal of Psychiatry, 2025
Genotype-phenotype associations in 1018 individuals with SCN1A-related epilepsies.
Gallagher D et al.
Epilepsia, 2024
Approach to Cohort-Wide Re-Analysis of Exome Data in 1000 Individuals with Neurodevelopmental Disorders.
Halfmeyer I et al.
Genes, 2022
Gene variant effects across sodium channelopathies predict function and guide precision therapy.
Brunklaus A et al.
Brain : a Journal of Neurology, 2022
Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical Practice.
McKnight D et al.
Jama Neurology, 2022
Concise Review: Stem Cell Models of SCN1A-Related Encephalopathies-Current Perspective and Future Therapies.
Zayat V et al.
Cells, 2022
Late sodium current: incomplete inactivation triggers seizures, myotonias, arrhythmias, and pain syndromes.
Fouda MA et al.
The Journal of Physiology, 2022
Neddylation stabilizes Nav1.1 to maintain interneuron excitability and prevent seizures in murine epilepsy models.
Chen W et al.
The Journal of Clinical Investigation, 2021
Persistent sodium currents in SCN1A developmental and degenerative epileptic dyskinetic encephalopathy.
Gorman KM et al.
Brain Communications, 2021
SCN1A Mutation-Beyond Dravet Syndrome: A Systematic Review and Narrative Synthesis.
Ding J et al.
Frontiers in Neurology, 2021
SCN1A variants from bench to bedside-improved clinical prediction from functional characterization.
Brunklaus A et al.
Human Mutation, 2020
The genetics and molecular biology of fever-associated seizures or epilepsy.
Deng H et al.
Expert Reviews in Molecular Medicine, 2018
Optimizing genomic medicine in epilepsy through a gene-customized approach to missense variant interpretation.
Traynelis J et al.
Genome Research, 2017
ExACtly zero or once: A clinically helpful guide to assessing genetic variants in mild epilepsies.
Bennett CA et al.
Neurology. Genetics, 2017
SCN1A clinical spectrum includes the self-limited focal epilepsies of childhood.
Kivity S et al.
Epilepsy Research, 2017
Patients with genetically heterogeneous synchronous colorectal cancer carry rare damaging germline mutations in immune-related genes.
Cereda M et al.
Nature Communications, 2016
The SCN1A mutation database: updating information and analysis of the relationships among genotype, functional alteration, and phenotype.
Meng H et al.
Human Mutation, 2015
Sodium channels and the neurobiology of epilepsy.
Oliva M et al.
Epilepsia, 2012
Mosaic SCN1A mutations in familial partial epilepsy with antecedent febrile seizures.
Shi YW et al.
Genes, Brain, and Behavior, 2012
Ranolazine selectively blocks persistent current evoked by epilepsy-associated Naν1.1 mutations.
Kahlig KM et al.
British Journal of Pharmacology, 2010
Partial epilepsy with antecedent febrile seizures and seizure aggravation by antiepileptic drugs: associated with loss of function of Na(v) 1.1.
Liao WP et al.
Epilepsia, 2010
Sodium channel SCN1A and epilepsy: mutations and mechanisms.
Escayg A et al.
Epilepsia, 2010
Mechanisms for variable expressivity of inherited SCN1A mutations causing Dravet syndrome.
Depienne C et al.
Journal of Medical Genetics, 2010
Altered function of the SCN1A voltage-gated sodium channel leads to gamma-aminobutyric acid-ergic (GABAergic) interneuron abnormalities.
Martin MS et al.
The Journal of Biological Chemistry, 2010
Advances on the genetics of mendelian idiopathic epilepsies.
Baulac S et al.
Neurologic Clinics, 2009
Physicochemical property changes of amino acid residues that accompany missense mutations in SCN1A affect epilepsy phenotype severity.
Kanai K et al.
Journal of Medical Genetics, 2009
Genetic etiology of new forms of familial epilepsy.
Wang X et al.
Frontiers in Bioscience : a Journal and Virtual Library, 2008
GEFS+ is not related to the most common mutations of SCN1B, SCN1A and GABRG2 in two Tunisian families.
Mrabet H et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2007
Genetic polymorphisms and idiopathic generalized epilepsies.
Lucarini N et al.
Pediatric Neurology, 2007
Role of genetics in the diagnosis and treatment of epilepsy.
Ferraro TN et al.
Expert Review of Neurotherapeutics, 2006
Genes and loci involved in febrile seizures and related epilepsy syndromes.
Audenaert D et al.
Human Mutation, 2006
An epilepsy mutation in the sodium channel SCN1A that decreases channel excitability.
Barela AJ et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2006
Genetic modifiers affecting severity of epilepsy caused by mutation of sodium channel Scn2a.
Bergren SK et al.
Mammalian Genome : Official Journal of the International Mammalian Genome Society, 2005
Inherited disorders of voltage-gated sodium channels.
George AL
The Journal of Clinical Investigation, 2005
Sodium channel mutations in epilepsy and other neurological disorders.
Meisler MH et al.
The Journal of Clinical Investigation, 2005
A family of generalized epilepsy with febrile seizures plus type 2-a new missense mutation of SCN1A found in the pedigree of several patients with complex febrile seizures.
Nagao Y et al.
Epilepsy Research, 2005
Neonatal epilepsy syndromes and GEFS+: mechanistic considerations.
Burgess DL
Epilepsia, 2005
Noninactivating voltage-gated sodium channels in severe myoclonic epilepsy of infancy.
Rhodes TH et al.
Proceedings of the National Academy of Sciences of the United States of America, 2004
Increased neuronal firing in computer simulations of sodium channel mutations that cause generalized epilepsy with febrile seizures plus.
Spampanato J et al.
Journal of Neurophysiology, 2004
Epilepsy-associated dysfunction in the voltage-gated neuronal sodium channel SCN1A.
Lossin C et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2003
Mechanisms of sodium channel inactivation.
Goldin AL
Current Opinion in Neurobiology, 2003
Generalized epilepsy with febrile seizures plus type 2 mutation W1204R alters voltage-dependent gating of Na(v)1.1 sodium channels.
Spampanato J et al.
Neuroscience, 2003
Epilepsy and ionic channels.
Roll P et al.
Epileptic Disorders : International Epilepsy Journal With Videotape, 2002