Associated Papers
Gene variant effects across sodium channelopathies predict function and guide precision therapy.
Brunklaus A et al.
Brain : a Journal of Neurology, 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
Whole exome sequencing identifies a novel SCN1A mutation in genetic (idiopathic) generalized epilepsy and juvenile myoclonic epilepsy subtypes.
Chan CK et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2020
SCN1A variants from bench to bedside-improved clinical prediction from functional characterization.
Brunklaus A et al.
Human Mutation, 2020
Optimizing genomic medicine in epilepsy through a gene-customized approach to missense variant interpretation.
Traynelis J et al.
Genome Research, 2017
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
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
Mechanisms of human inherited epilepsies.
Reid CA et al.
Progress in Neurobiology, 2009
Genetic etiology of new forms of familial epilepsy.
Wang X et al.
Frontiers in Bioscience : a Journal and Virtual Library, 2008
Modulatory proteins can rescue a trafficking defective epileptogenic Nav1.1 Na+ channel mutant.
Rusconi R et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 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
Recurrent de novo mutations of SCN1A in severe myoclonic epilepsy of infancy.
Kearney JA et al.
Pediatric Neurology, 2006
Sodium channel dysfunction in intractable childhood epilepsy with generalized tonic-clonic seizures.
Rhodes TH et al.
The Journal of Physiology, 2005
Sodium channels as macromolecular complexes: implications for inherited arrhythmia syndromes.
Meadows LS et al.
Cardiovascular Research, 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 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
Differential effects of paramyotonia congenita mutations F1473S and F1705I on sodium channel gating.
Groome JR et al.
Channels (austin, Tex.), 0