Article
Vitamin B6-Responsive Epilepsy due to a Novel KCNQ2 Mutation.
Neuropediatrics - 1 Jun 2017
Klotz Kerstin Alexandra, Lemke Johannes R, Korinthenberg Rudolf, Jacobs Julia
Abstract excerpt
Mutations in KCNQ2, encoding for subunits of potassium channels, are known to cause neonatal epileptic encephalopathy (NEE). Therapeutic options for these children are often limited. Recently, there are indications that some patients with KCNQ2 NEE show seizure response to vitamin B6 (VB6) therapy. We present a young infant with severe KCNQ2 encephalopathy resulting from a novel de novo mutation (c.1023G>C;...
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