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Article

A Potassium Channel Mutation in Neonatal Human Epilepsy

16 Jan 1998

Abstract excerpt

Benign familial neonatal convulsions (BFNC) is an autosomal dominant epilepsy of infancy, with loci mapped to human chromosomes 20q13.3 and 8q24. By positional cloning, a potassium channel gene (KCNQ2) located on 20q13.3 was isolated and found to be expressed in brain. Expression of KCNQ2 in frog (Xenopus laevis) oocytes led to potassium-selective currents that activated slowly with depolarization. In a large...

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PMID: 9430594
DOI: 10.1126/science.279.5349.403

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A Potassium Channel Mutation in Neonatal Human EpilepsyPMID 9430594Read ↗

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KCNQ2/KCNQ3 K+ channels and the molecular pathogenesis of epilepsy: implications for therapy.Semantic proximity Read ↗

Functional analysis of novel KCNQ2 mutations found in patients with Benign Familial Neonatal Convulsions.Semantic proximity Read ↗

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Developmental changes in KCNQ2 and KCNQ3 expression in human brain: Possible contribution to the age-dependent etiology of benign familial neonatal convulsionsSemantic proximity Read ↗

Functional Expression of Two KvLQT1-related Potassium Channels Responsible for an Inherited Idiopathic EpilepsySemantic proximity Read ↗

A de novo KCNQ2 mutation detected in non-familial benign neonatal convulsions.Semantic proximity Read ↗

Potassium channel genes and benign familial neonatal epilepsy.Semantic proximity Read ↗

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