Article
Complete loss of the cytoplasmic carboxyl terminus of the KCNQ2 potassium channel: a novel mutation in a large Czech pedigree with benign neonatal convulsions or other epileptic phenotypes.
Epilepsia - 1 Apr 2004
Pereira Sandrine, Roll Patrice, Krizova Jitka, Genton Pierre, Brazdil Milan, Kuba Robert, Cau Pierre, Rektor Ivan, Szepetowski Pierre
Abstract excerpt
PURPOSE: Benign neonatal familial convulsions (BNFCs) represent a rare epileptic disorder with autosomal dominant mode of inheritance. To date, two voltage-gated potassium (K+) channel genes, KCNQ2 and KCNQ3, have been identified in typical BNFC families. The study of new pedigrees may help detect new mutations and define genotype-phenotype correlations. METHODS: A large Czech family was detected in which BNFC...
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