Article
De novo SCN1A mutations in migrating partial seizures of infancy.
Neurology - 26 Jul 2011
Carranza Rojo D, Hamiwka L, McMahon J M, Dibbens L M, Arsov T, Suls A, Stödberg T, Kelley K, Wirrell E, Appleton B, Mackay M, Freeman J L, Yendle S C, Berkovic S F, Bienvenu T, De Jonghe P, Thorburn D R, Mulley J C, Mefford H C, Scheffer I E
Abstract excerpt
OBJECTIVE: To determine the genetic etiology of the severe early infantile onset syndrome of malignant migrating partial seizures of infancy (MPSI). METHODS: Fifteen unrelated children with MPSI were screened for mutations in genes associated with infantile epileptic encephalopathies: SCN1A, CDKL5, STXBP1, PCDH19, and POLG. Microarray studies were performed to identify copy number variations. RESULTS: One patient...
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