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Article

Allelic association of a truncation mutation of the KCNMB3 gene with idiopathic generalized epilepsy.

American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics - 5 Jan 2007

Lorenz Susanne, Heils Armin, Kasper Johannes M, Sander Thomas

Abstract excerpt

The gene encoding the beta3-subunit regulatory subunit (KCNMB3) of large conductance calcium-sensitive potassium (BK) channels represents a positional and functional candidate gene for idiopathic generalized epilepsy (IGE). A single base pair deletion in exon 4 of KCNMB3 (delA750) alters/truncates the terminal 21 amino acids of the 3-subunit and affects channel inactivation of the beta3b-isoform. The present...

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Identifiers

PMID: 16958040
DOI: 10.1002/ajmg.b.30369

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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