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

doi:10.1046/j.1528-1157.2003.61102.x

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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...

Topics

Adolescent
Adult
Amino Acid Sequence
Animals
Anticonvulsants
Carbamazepine
Child
Epilepsy, Frontal Lobe
Female
Gene Expression
Genetic Carrier Screening

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Humans

Isoleucine

Male

Middle Aged

Oocytes

Pedigree

Penetrance

Source

Open in PubMed

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 31 Aug 2026.

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