Autosomal Dominant Sleep-Related Hypermotor (Hyperkinetic) Epilepsy.
Kurahashi H, Hirose S.
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; 1993–2025.
Autosomal dominant nocturnal frontal lobe epilepsy--a critical overview.
Combi R, Dalprà L, Tenchini ML, Ferini-Strambi L.
J Neurol. 2004 Aug;251(8):923-34. doi: 10.1007/s00415-004-0541-x.
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; 1993–2025.
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; 1993–2025.
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.
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.
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.
Transl Pediatr. 2022 Mar;11(3):396-402. doi: 10.21037/tp-22-54.
Genetic heterogeneity in familial nocturnal frontal lobe epilepsy.
Steinlein OK.
Prog Brain Res. 2014;213:1-15. doi: 10.1016/B978-0-444-63326-2.00001-6.
Autosomal dominant nocturnal frontal lobe epilepsy.
Scheffer IE.
Epilepsia. 2000 Aug;41(8):1059-60. doi: 10.1111/j.1528-1157.2000.tb00298.x.
A novel prophylactic effect of furosemide treatment on autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE).
Yamada J, Zhu G, Okada M, Hirose S, Yoshida S, Shiba Y, Migita K, Mori F, Sugawara T, Chen L, Liu F, Yoshida S, Ueno S, Kaneko S.
Epilepsy Res. 2013 Nov;107(1-2):127-37. doi: 10.1016/j.eplepsyres.2013.08.018. Epub 2013 Sep 3.
