Article
Myokymia and neonatal epilepsy caused by a mutation in the voltage sensor of the KCNQ2 K+ channel.
Proceedings of the National Academy of Sciences of the United States of America - 9 Oct 2001
Dedek K, Kunath B, Kananura C, Reuner U, Jentsch T J, Steinlein O K
Abstract excerpt
KCNQ2 and KCNQ3 are two homologous K(+) channel subunits that can combine to form heterotetrameric channels with properties of neuronal M channels. Loss-of-function mutations in either subunit can lead to benign familial neonatal convulsions (BFNC), a generalized, idiopathic epilepsy of the newborn. We now describe a syndrome in which BFNC is followed later in life by myokymia, involuntary contractions of...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.