Associated Papers
Optimizing genomic medicine in epilepsy through a gene-customized approach to missense variant interpretation.
Traynelis J et al.
Genome Research, 2017
28864458 (PubMed )
Supplement: supp_gr.226589.117_Supplemental_Data_S1.xlsx › Data_S1
Mosaic SCN1A mutations in familial partial epilepsy with antecedent febrile seizures.
Shi YW et al.
Genes, Brain, and Behavior, 2012
Dravet syndrome as epileptic encephalopathy: evidence from long-term course and neuropathology.
Catarino CB et al.
Brain : a Journal of Neurology, 2011
The SCN1A variant database: a novel research and diagnostic tool.
Claes LR et al.
Human Mutation, 2009
A novel inherited mutation in the voltage sensor region of SCN1A is associated with Panayiotopoulos syndrome in siblings and generalized epilepsy with febrile seizures plus.
Livingston JH et al.
Journal of Child Neurology, 2009
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