Article
SCN8A encephalopathy: Research progress and prospects.
Epilepsia - 1 Jul 2016
Meisler Miriam H, Helman Guy, Hammer Michael F, Fureman Brandy E, Gaillard William D, Goldin Alan L, Hirose Shinichi, Ishii Atsushi, Kroner Barbara L, Lossin Christoph, Mefford Heather C, Parent Jack M, Patel Manoj, Schreiber John, Stewart Randall, Whittemore Vicky, Wilcox Karen, Wagnon Jacy L, Pearl Phillip L, Vanderver Adeline, Scheffer Ingrid E
Abstract excerpt
On April 21, 2015, the first SCN8A Encephalopathy Research Group convened in Washington, DC, to assess current research into clinical and pathogenic features of the disorder and prepare an agenda for future research collaborations. The group comprised clinical and basic scientists and representatives of patient advocacy groups. SCN8A encephalopathy is a rare disorder caused by de novo missense mutations of the...
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