Article
DEPDC5 mutations in familial and sporadic focal epilepsy.
Clinical genetics - 1 Oct 2017
Tsai M-H, Chan C-K, Chang Y-C, Yu Y-T, Chuang S-T, Fan W-L, Li S-C, Fu T-Y, Chang W-N, Liou C-W, Chuang Y-C, Ng C-C, Hwang D-Y, Lim K-S
Abstract excerpt
BACKGROUND AND AIMS: Mutations in the disheveled, Egl-10 and pleckstrin domain-containing protein 5 (DEPDC5) gene have emerged as an important cause of various familial focal epilepsy syndromes. However, the significance of DEPDC5 mutations in patients with sporadic focal epilepsy has yet to be characterized. MATERIALS AND METHODS: We studied a kindred of familial focal epilepsy with variable foci using...
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