We assessed the mutation frequency in nicotinic acetylcholine receptor (nAChR) subunits CHRNA4, CHRNB2, and CHRNA2 in a cohort including autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) and sporadic nocturnal frontal lobe epilepsy (NFLE). Upon finding a novel mutation in CHRNA2 in a large family, we tested in vitro its functional effects.

Conti, V., Aracri, P., Chiti, L., Brusco, S., Mari, F., Marini, C., et al. (2015). Nocturnal frontal lobe epilepsy with paroxysmal arousals due to CHRNA2 loss of function. NEUROLOGY, 84(15), 1520-1528 [10.1212/WNL.0000000000001471].

Nocturnal frontal lobe epilepsy with paroxysmal arousals due to CHRNA2 loss of function

LIGUORI, CLAUDIO;PLACIDI, FABIO;
2015

Abstract

We assessed the mutation frequency in nicotinic acetylcholine receptor (nAChR) subunits CHRNA4, CHRNB2, and CHRNA2 in a cohort including autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) and sporadic nocturnal frontal lobe epilepsy (NFLE). Upon finding a novel mutation in CHRNA2 in a large family, we tested in vitro its functional effects.
Pubblicato
Rilevanza internazionale
Articolo
Esperti anonimi
Settore MED/26 - Neurologia
English
Con Impact Factor ISI
Adolescent; Adult; Child; Child, Preschool; Cohort Studies; Epilepsy, Frontal Lobe; Female; Genotype; Humans; Male; Middle Aged; Parasomnias; Pedigree; Receptors, Nicotinic
Conti, V., Aracri, P., Chiti, L., Brusco, S., Mari, F., Marini, C., et al. (2015). Nocturnal frontal lobe epilepsy with paroxysmal arousals due to CHRNA2 loss of function. NEUROLOGY, 84(15), 1520-1528 [10.1212/WNL.0000000000001471].
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
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Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/2108/171340
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