Article
Novel susceptibility locus at chromosome 6q16.3-22.31 in a family with GEFS+.
Neurology - 20 Oct 2009
Poduri A, Wang Y, Gordon D, Barral-Rodriguez S, Barker-Cummings C, Ulgen A, Chitsazzadeh V, Hill R S, Risch N, Hauser W A, Pedley T A, Walsh C A, Ottman R
Abstract excerpt
BACKGROUND: Genetic epilepsy with febrile seizures plus (GEFS+) is a familial epilepsy syndrome with extremely variable expressivity. Mutations in 5 genes that raise susceptibility to GEFS+ have been discovered, but they account for only a small proportion of families. METHODS: We identified a 4-generation family containing 15 affected individuals with a range of phenotypes in the GEFS+ spectrum, including...
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