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A novel mutation in KCNQ2 associated with BFNC, drug resistant epilepsy, and mental retardation.

A novel mutation in KCNQ2 associated with BFNC, drug resistant epilepsy, and mental retardation. Benign familial neonatal convulsion (BFNC) is a rare autosomal dominant disorder caused by mutations in two genes, KCNQ2 and KCNQ3, encoding for potassium channel subunits underlying the M-current. This current limits neuronal hyperexcitability by causing spike-frequency adaptation. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Neurology Pubmed

A novel mutation in KCNQ2 associated with BFNC, drug resistant epilepsy, and mental retardation.

A novel mutation in KCNQ2 associated with BFNC, drug resistant epilepsy, and mental retardation.


Abstract

Benign familial neonatal convulsion (BFNC) is a rare autosomal dominant disorder caused by mutations in two genes, KCNQ2 and KCNQ3, encoding for potassium channel subunits underlying the M-current. This current limits neuronal hyperexcitability by causing spike-frequency adaptation.

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ISSN
0028-3878
eISSN
1526-632X
DOI
10.1212/01.wnl.0000132979.08394.6d
pmid
15249611
Publisher site
See Article on Publisher Site

Abstract

Benign familial neonatal convulsion (BFNC) is a rare autosomal dominant disorder caused by mutations in two genes, KCNQ2 and KCNQ3, encoding for potassium channel subunits underlying the M-current. This current limits neuronal hyperexcitability by causing spike-frequency adaptation.

Journal

NeurologyPubmed

Published: Dec 21, 2004

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