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Article

Pleiotropic functional effects of the first epilepsy-associated mutation in the human CHRNA2 gene.

FEBS letters - 19 May 2009

Hoda Jean-Charles, Wanischeck Mario, Bertrand Daniel, Steinlein Ortrud K

Abstract excerpt

Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) can be caused by mutations in the neuronal nicotinic acetylcholine receptor (nAChR) subunit genes CHRNA4 and CHRNB2. Recently, a point mutation (alpha2-I279N) associated with sleep-related epilepsy has been described in a third nAChR gene, CHRNA2. We demonstrate here that alpha2-I279N can be co-expressed with the major structural subunit CHRNB2....

Topics

Amino Acid Sequence
Amino Acid Substitution
Animals
Epilepsy, Frontal Lobe
Female
Humans
Molecular Sequence Data
Mutation
Oocytes
Receptors, Nicotinic
Xenopus

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 19383498
DOI: 10.1016/j.febslet.2009.04.024

Genes

CHRNA2
CHRNB2
CHRNA4

Variants

Provenance

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Pleiotropic functional effects of the first epilepsy-associated mutation in the human CHRNA2 gene.PMID 19383498Read ↗

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