Abstract
The molecular pathogenesis of benign childhood epilepsy with centrotemporal spikes (BECTS) remains unclear whereas mutations of the KCNQ2 and KCNQ3 genes have been identified as causes of benign familial neonatal convulsions. We report here a girl with benign neonatal convulsions followed by BECTS, for whom a mutation of KCNQ2 was identified. This case may provide the clue to the understanding of the molecular pathogenesis of BECTS.
Copyright © 2012 Elsevier B.V. All rights reserved.
Publication types
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Research Support, Non-U.S. Gov't
MeSH terms
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Electroencephalography
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Epilepsy, Benign Neonatal / diagnosis
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Epilepsy, Benign Neonatal / genetics*
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Epilepsy, Benign Neonatal / physiopathology
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Epilepsy, Rolandic / diagnosis
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Epilepsy, Rolandic / genetics*
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Epilepsy, Rolandic / physiopathology
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Family Health
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Female
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Humans
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Infant, Newborn
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KCNQ2 Potassium Channel / chemistry
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KCNQ2 Potassium Channel / genetics*
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Pedigree
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Protein Structure, Tertiary
Substances
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KCNQ2 Potassium Channel
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KCNQ2 protein, human