Associated Papers
Sodium channel mutation SCN1A T875M, D188V and associated dysfunction with drug resistant epilepsy.
Dabla PK et al.
World Journal of Psychiatry, 2025
Investigation of the Genetic Etiology in Idiopathic Generalized Epileptic Disorders by Targeted Next-generation Sequencing Technique
Atlı E et al.
Balkan Medical Journal, 2023
SCN1A Mutation-Beyond Dravet Syndrome: A Systematic Review and Narrative Synthesis.
Ding J et al.
Frontiers in Neurology, 2021
Multimodal Analysis of SCN1A Missense Variants Improves Interpretation of Clinically Relevant Variants in Dravet Syndrome.
Gonsales MC et al.
Frontiers in Neurology, 2019
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
The SCN1A gene variants and epileptic encephalopathies.
Parihar R et al.
Journal of Human Genetics, 2013
Sodium channels and the neurobiology of epilepsy.
Oliva M et al.
Epilepsia, 2012
Neurological perspectives on voltage-gated sodium channels.
Eijkelkamp N et al.
Brain : a Journal of Neurology, 2012
Mutational analysis of SCN2B, SCN3B and SCN4B in a large Chinese Han family with generalized tonic-clonic seizure.
Lu Y et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2010
Sodium channel SCN1A and epilepsy: mutations and mechanisms.
Escayg A et al.
Epilepsia, 2010
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
Genetic polymorphisms and idiopathic generalized epilepsies.
Lucarini N et al.
Pediatric Neurology, 2007
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
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
A novel epilepsy mutation in the sodium channel SCN1A identifies a cytoplasmic domain for beta subunit interaction.
Spampanato J et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2004
Genetics of the epilepsies.
Gutierrez-Delicado E et al.
Current Opinion in Neurology, 2004
Theoretical investigation of the neuronal Na+ channel SCN1A: abnormal gating and epilepsy.
Clancy CE et al.
Biophysical Journal, 2004
Inherited Channelopathies Associated with Epilepsy.
George AL
Epilepsy Currents, 2004
Functional characterization of the D188V mutation in neuronal voltage-gated sodium channel causing generalized epilepsy with febrile seizures plus (GEFS).
Cossette P et al.
Epilepsy Research, 2003
Ion channel variation causes epilepsies.
Moulard B et al.
Brain Research. Brain Research Reviews, 2001
Neuronal sodium-channel alpha1-subunit mutations in generalized epilepsy with febrile seizures plus.
Wallace RH et al.
American Journal of Human Genetics, 2001