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Article

Subthreshold changes of voltage-dependent activation of the K(V)7.2 channel in neonatal epilepsy.

Neurobiology of disease - 1 Oct 2006

Hunter Jessica, Maljevic Snezana, Shankar Anupama, Siegel Anne, Weissman Barbara, Holt Philip, Olson Larry, Lerche Holger, Escayg Andrew

Abstract excerpt

Benign familial neonatal convulsions (BFNC) is an epileptic disorder caused by dominant mutations in the genes KCNQ2 and KCNQ3 encoding the K+ channels K(V)7.2 and K(V)7.3. We identified two novel KCNQ2 mutations in two BFNC families. One mutation predicted a truncated protein (S247X) that lacks the channel's pore region, the other resulted in the amino acid substitution S122L in the S2 segment of K(V)7.2. In...

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Source

Identifiers

PMID: 16916607
DOI: 10.1016/j.nbd.2006.06.011

Genes

KCNQ2
KCNQ3

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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Subthreshold changes of voltage-dependent activation of the K(V)7.2 channel in neonatal epilepsy.PMID 16916607Read ↗

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