Article
A novel splicing mutation in KCNQ2 in a multigenerational family with BFNC followed for 25 years.
Epilepsia - 1 May 2006
de Haan Gerrit-Jan, Pinto Dalila, Carton Dietbrandt, Bader Adri, Witte Jorien, Peters Edith, van Erp Gerard, Vandereyken Willem, Boezeman Eduard, Wapenaar Martin C, Boon Paul, Halley Dicky, Koeleman Bobby P C, Lindhout Dick
Abstract excerpt
PURPOSE: A large multigenerational family with benign familial neonatal convulsions (BFNC) was revisited to identify the disease-causing mutation and to assess long-term outcome. METHODS: We supplemented the original data with recent clinical and neurophysiologic data on patients and first-degree relatives, including information on seizure recurrence. We conducted linkage analysis at the EBN1 and EBN2 loci,...
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