Associated Papers
Gene variant effects across sodium channelopathies predict function and guide precision therapy.
Brunklaus A et al.
Brain : a Journal of Neurology, 2022
Biological concepts in human sodium channel epilepsies and their relevance in clinical practice.
Brunklaus A et al.
Epilepsia, 2020
SCN1A variants from bench to bedside-improved clinical prediction from functional characterization.
Brunklaus A et al.
Human Mutation, 2020
The SCN1A mutation database: updating information and analysis of the relationships among genotype, functional alteration, and phenotype.
Meng H et al.
Human Mutation, 2015
Electrophysiological Differences between the Same Pore Region Mutation in SCN1A and SCN3A.
Chen YJ et al.
Molecular Neurobiology, 2015
Dravet syndrome: insights from in vitro experimental models.
Mantegazza M
Epilepsia, 2011
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
Nonfunctional SCN1A is common in severe myoclonic epilepsy of infancy.
Ohmori I et al.
Epilepsia, 2006
Sodium channel dysfunction in intractable childhood epilepsy with generalized tonic-clonic seizures.
Rhodes TH et al.
The Journal of Physiology, 2005
Mutations of sodium channel alpha subunit type 1 (SCN1A) in intractable childhood epilepsies with frequent generalized tonic-clonic seizures.
Fujiwara T et al.
Brain : a Journal of Neurology, 2003
(What to do) when epilepsy gene mutations stop making sense.
Cooper EC
Epilepsy Currents, 0
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