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
Real-world utility of whole exome sequencing with targeted gene analysis for focal epilepsy.
Perucca P et al.
Epilepsy Research, 2017
Scn1a missense mutation causes limbic hyperexcitability and vulnerability to experimental febrile seizures.
Ohno Y et al.
Neurobiology of Disease, 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
Genetic etiology of new forms of familial epilepsy.
Wang X et al.
Frontiers in Bioscience : a Journal and Virtual Library, 2008
Phenotypes and genotypes in epilepsy with febrile seizures plus.
Ito M et al.
Epilepsy Research, 2006
Genes and loci involved in febrile seizures and related epilepsy syndromes.
Audenaert D et al.
Human Mutation, 2006
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
Nav1.1 mutations cause febrile seizures associated with afebrile partial seizures.
Sugawara T et al.
Neurology, 2001
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