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Article

Alteration of the in vivo nicotinic receptor density in ADNFLE patients: a PET study.

Brain : a journal of neurology - 1 Aug 2006

Picard F, Bruel D, Servent D, Saba W, Fruchart-Gaillard C, Schöllhorn-Peyronneau M-A, Roumenov D, Brodtkorb E, Zuberi S, Gambardella A, Steinborn B, Hufnagel A, Valette H, Bottlaender M

Abstract excerpt

Nicotinic acetylcholine receptors (nAChRs) are involved in a familial form of frontal lobe epilepsy, autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE). In several ADNFLE families, mutations were identified in the nAChR alpha4 or beta2 subunit, which together compose the main cerebral nAChR. Electrophysiological assessment using in vitro expression systems indicated a gain of function of the mutant...

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Identifiers

PMID: 16815873
DOI: 10.1093/brain/awl156

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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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