| Literature DB >> 15596769 |
L R F Claes1, B Ceulemans, D Audenaert, L Deprez, A Jansen, D Hasaerts, S Weckx, K G Claeys, J Del-Favero, C Van Broeckhoven, P De Jonghe.
Abstract
Benign familial neonatal convulsions (BFNC) are characterized by unprovoked seizures during the first weeks of life with spontaneous remission after a few months. Mutations have been identified in the voltage-gated potassium ion channels KCNQ2 and KCNQ3. The authors performed a mutation analysis of KCNQ2 and KCNQ3 in six patients of whom four had no family history of neonatal seizures. The authors identified three KCNQ2 mutations in four patients that all arose de novo.Entities:
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Year: 2004 PMID： 15596769 DOI： 10.1212/01.wnl.0000145629.94338.89
Source DB: PubMed Journal: Neurology ISSN： 0028-3878 Impact factor: 9.910