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Neurology. 2004 Dec 14;63(11):2155-8.

De novo KCNQ2 mutations in patients with benign neonatal seizures.

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  • 1Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology (VIB), University of Antwerp, Antwerpen, Belgium.

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.

PMID:
15596769
[PubMed - indexed for MEDLINE]
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