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De novo KCNQ2 mutations in patients with benign neonatal seizures

From the Department of Molecular Genetics (Drs. Claes, Ceulemans, Audenaert, Deprez, Weckx, Claeys, Del-Favero, Van Broeckhoven, and De Jonghe), Flanders Interuniversity Institute for Biotechnology (VIB), University of Antwerp, Antwerpen; Department of Neurology (Drs. Ceulemans, Claeys, and De Jonghe), University Hospital Antwerp, Antwerpen; Epilepsy Centre for Children and Youth (Dr. Ceulemans), Pulderbos; and Department of Neurology (Drs. Jansen and Hasaerts), Pediatric Neurology, University Hospital VUB, Brussels, Belgium.

Address correspondence and reprint requests to Prof. Dr. P. De Jonghe, Department of Molecular Genetics (VIB8), Epilepsy Research Group, University of Antwerp (Campus Drie Eiken), Universiteitsplein 1, B-2610 Antwerpen, Belgium; e-mail: peter.dejonghe{at}ua.ac.be

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.

Received March 11, 2004. Accepted in final form July 19, 2004.

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