De novo KCNQ2 mutations in patients with benign neonatal seizures.

Lieve Claes, Berten Ceulemans, D. Audenaert, Liesbet Deprez, Anna Jansen, D. Hasaerts, S. Weckx, K.g. Claeys, Jurgen Del-Favero, Christine Van Broeckhoven, P. De Jonghe

Onderzoeksoutput: Articlepeer review

53 Citaten (Scopus)

Samenvatting

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.
Originele taal-2English
Pagina's (van-tot)2155-2158
Aantal pagina's4
TijdschriftNeurology
Volume63
StatusPublished - 14 dec 2004

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