The role of nicotinic acetylcholine receptors in autosomal dominant nocturnal frontal lobe epilepsy.
Becchetti A, Aracri P, Meneghini S, Brusco S, Amadeo A.
Front Physiol. 2015 Feb 11;6:22. doi: 10.3389/fphys.2015.00022. eCollection 2015.
PMID:25717303
KCNT1-Related Epilepsy.
Gertler T, Bearden D, Bhattacharjee A, Carvill G.
2018 Sep 20. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024.
PMID:30234941
DEPDC5-Related Epilepsy.
Baulac S, Baldassari S.
2016 Sep 29 [updated 2023 Mar 9]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024.
PMID:27683934
Revisiting autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) mutations in the nicotinic acetylcholine receptor reveal an increase in efficacy regardless of stochiometry.
Indurthi DC, Qudah T, Liao VW, Ahring PK, Lewis TM, Balle T, Chebib M, Absalom NL.
Pharmacol Res. 2019 Jan;139:215-227. doi: 10.1016/j.phrs.2018.11.031. Epub 2018 Nov 22.
PMID:30472464
Neuronal nicotinic acetylcholine receptors and autosomal dominant nocturnal frontal lobe epilepsy: a critical review.
A novel missense creatine mutant of CaBP4, c.464G>A (p.G155D), associated with autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE), reduces the expression of CaBP4.
Guo Y, Miao Q, Zhang Y, Wang C, Liang M, Li X, Qiu W, Shi G, Zhai Q, Chen Z.
2002 May 16 [updated 2023 Mar 23]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024.
PMID:20301348
Genetic heterogeneity in familial nocturnal frontal lobe epilepsy.