Article
In vivo loss of slow potassium channel activity in individuals with benign familial neonatal epilepsy in remission.
Brain : a journal of neurology - 1 Oct 2012
Tomlinson Susan E, Bostock Hugh, Grinton Bronwyn, Hanna Michael G, Kullmann Dimitri M, Kiernan Matthew C, Scheffer Ingrid E, Berkovic Samuel F, Burke David
Abstract excerpt
Benign familial neonatal epilepsy is a neuronal channelopathy most commonly caused by mutations in KCNQ2, which encodes the K(v)7.2 subunit of the slow K(+) channel. K(v)7.2 is expressed in both central and peripheral nervous systems. Seizures occur in the neonatal period, often in clusters within the first few days of life, and usually remit by 12 months of age. The mechanism of involvement of K(v)7.2 mutations...
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