Prevalence of SCN1A mutations in children with suspected Dravet syndrome and intractable childhood epilepsy
J Wang, X Shi, H Kurahashi, SK Hwang, A Ishii… - Epilepsy research, 2012 - Elsevier
Mutations of the gene encoding the α1 subunit of neuronal sodium channel, SCN1A, are
reported to cause Dravet syndrome (DS). The prevalence of mutations reported in such
studies (mainly in clinically confirmed DS) seems high enough to make genetic diagnosis
feasible. In fact, commercially operating genetic diagnostic laboratories offering genetic
analyses of SCN1A are available. Still, the exact prevalence of mutations of SCN1A remains
elusive. Fukuoka University has been serving as a genetic diagnostic laboratory for DS for …
reported to cause Dravet syndrome (DS). The prevalence of mutations reported in such
studies (mainly in clinically confirmed DS) seems high enough to make genetic diagnosis
feasible. In fact, commercially operating genetic diagnostic laboratories offering genetic
analyses of SCN1A are available. Still, the exact prevalence of mutations of SCN1A remains
elusive. Fukuoka University has been serving as a genetic diagnostic laboratory for DS for …
