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Nocturnal frontal lobe epilepsy with paroxysmal arousals due to CHRNA2 loss of function.
Conti V, Aracri P, Chiti L, Brusco S, Mari F, Marini C, Albanese M, Marchi A, Liguori C, Placidi F, Romigi A, Becchetti A, Guerrini R. Conti V, et al. Among authors: becchetti a. Neurology. 2015 Apr 14;84(15):1520-8. doi: 10.1212/WNL.0000000000001471. Epub 2015 Mar 13. Neurology. 2015. PMID: 25770198 Free PMC article.
Increased sensitivity of the neuronal nicotinic receptor alpha 2 subunit causes familial epilepsy with nocturnal wandering and ictal fear.
Aridon P, Marini C, Di Resta C, Brilli E, De Fusco M, Politi F, Parrini E, Manfredi I, Pisano T, Pruna D, Curia G, Cianchetti C, Pasqualetti M, Becchetti A, Guerrini R, Casari G. Aridon P, et al. Among authors: becchetti a. Am J Hum Genet. 2006 Aug;79(2):342-50. doi: 10.1086/506459. Epub 2006 Jun 26. Am J Hum Genet. 2006. PMID: 16826524 Free PMC article.
121 results