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Article

A new Chrna4 mutation with low penetrance in nocturnal frontal lobe epilepsy.

Epilepsia - 1 Jul 2003

Leniger Tobias, Kananura Colette, Hufnagel Andreas, Bertrand Sonia, Bertrand Daniel, Steinlein Ortrud K

Abstract excerpt

PURPOSE: To identify and characterize the mutation(s) causing nocturnal frontal lobe epilepsy in a German extended family. METHODS: Neuronal nicotinic acetylcholine receptor (nAChR) subunit genes were screened by direct sequencing. Once a CHRNA4 mutation was identified, its biophysical and pharmacologic properties were characterized by expression experiments in Xenopus oocytes. RESULTS: We report a new CHRNA4...

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Source

Identifiers

PMID: 12823585
DOI: 10.1046/j.1528-1157.2003.61102.x

Genes

CHRNA4

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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