Associated Papers
Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.
Carvill GL et al.
Nature Genetics, 2013
23708187 (PubMed )
Supplement: NIHMS474984-supplement-1.pdf
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
The spectrum of SCN1A-related infantile epileptic encephalopathies.
Harkin LA et al.
Brain : a Journal of Neurology, 2007
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