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Article

Expression of mutant beta2 nicotinic receptors during development is crucial for epileptogenesis.

Human molecular genetics - 15 Mar 2009

Manfredi Irene, Zani Alessia D, Rampoldi Luca, Pegorini Simona, Bernascone Ilenia, Moretti Milena, Gotti Cecilia, Croci Laura, Consalez G Giacomo, Ferini-Strambi Luigi, Sala Mariaelvina, Pattini Linda, Casari Giorgio

Abstract excerpt

Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is a focal form of epilepsy characterized by seizures occurring during non-REM sleep. We have developed and characterized the first mouse model for ADNFLE type III carrying the V287L mutation of the beta2 subunit of neuronal nicotinic receptor. Mice expressing mutant receptors show a spontaneous epileptic phenotype by electroencephalography with very...

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PMID: 19153075
DOI: 10.1093/hmg/ddp004

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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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