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Quoted phrase not found in phrase index: "Autosomal dominant nocturnal frontal lobe epilepsy 5"
Page 1
Autosomal dominant nocturnal frontal lobe epilepsy--a critical overview.
Combi R, Dalprà L, Tenchini ML, Ferini-Strambi L. Combi R, et al. J Neurol. 2004 Aug;251(8):923-34. doi: 10.1007/s00415-004-0541-x. J Neurol. 2004. PMID: 15316796 Review.
Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is an idiopathic epilepsy, with a spectrum of clinical manifestations, ranging from brief, stereotyped, sudden arousals to more complex dystonic-dyskinetic seizures. ...Th …
Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is an idiopathic epilepsy, with a spec …
Autism in siblings with autosomal dominant nocturnal frontal lobe epilepsy.
Miyajima T, Kumada T, Saito K, Fujii T. Miyajima T, et al. Brain Dev. 2013 Feb;35(2):155-7. doi: 10.1016/j.braindev.2012.07.012. Epub 2012 Aug 9. Brain Dev. 2013. PMID: 22883468
In 1999, Hirose et al. reported a Japanese family with autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) associated with a neuronal nicotinic acetylcholine receptor alpha4 subunit mutation (S252L). We followed the siblings of th …
In 1999, Hirose et al. reported a Japanese family with autosomal dominant nocturnal frontal lobe epile …
Precision therapy for epilepsy due to KCNT1 mutations: A randomized trial of oral quinidine.
Mullen SA, Carney PW, Roten A, Ching M, Lightfoot PA, Churilov L, Nair U, Li M, Berkovic SF, Petrou S, Scheffer IE. Mullen SA, et al. Neurology. 2018 Jan 2;90(1):e67-e72. doi: 10.1212/WNL.0000000000004769. Epub 2017 Dec 1. Neurology. 2018. PMID: 29196578 Clinical Trial.
OBJECTIVE: To evaluate quinidine as a precision therapy for severe epilepsy due to gain of function mutations in the potassium channel gene KCNT1. METHODS: A single-center, inpatient, order-randomized, blinded, placebo-controlled, crossover trial of oral quinidine i …
OBJECTIVE: To evaluate quinidine as a precision therapy for severe epilepsy due to gain of function mutations in the potassium channel gene …
Gene-wide tagging study of the association between KCNT1 polymorphisms and the susceptibility and efficacy of genetic generalized epilepsy in Chinese population.
Qu J, Zhang Y, Yang ZQ, Mao XY, Zhou BT, Yin JY, He H, Li XP, Long HY, Lv N, Xu XJ, Xiao B, Zhang Y, Tang Q, Hu DL, Zhou HH, Liu ZQ. Qu J, et al. CNS Neurosci Ther. 2014 Feb;20(2):140-6. doi: 10.1111/cns.12169. Epub 2013 Nov 27. CNS Neurosci Ther. 2014. PMID: 24279416 Free PMC article.
Some studies found that the human potassium channel, subfamily T, member 1 (KCNT1) is the candidate gene causing malignant migrating partial seizures of infancy and autosomal dominant nocturnal frontal lobe epilepsy which are all rare gen …
Some studies found that the human potassium channel, subfamily T, member 1 (KCNT1) is the candidate gene causing malignant migrating partial …
Nicotine: A Targeted Therapy for Epilepsy Due to nAChR Gene Variants.
Fox J, Thodeson DM, Dolce AM. Fox J, et al. J Child Neurol. 2021 Apr;36(5):371-377. doi: 10.1177/0883073820974851. Epub 2020 Dec 7. J Child Neurol. 2021. PMID: 33284031
Four patients were prescribed nicotine patches for intractable seizures. Three of 4 patients had a clinical response, with >50% seizure reduction. CONCLUSIONS: Treatment with a nicotine patch can be an effective therapy in epilepsy patients with nAChR gene variants. We …
Four patients were prescribed nicotine patches for intractable seizures. Three of 4 patients had a clinical response, with >50% se …
Effect of carbamazepine and oxcarbazepine on wild-type and mutant neuronal nicotinic acetylcholine receptors linked to nocturnal frontal lobe epilepsy.
Di Resta C, Ambrosi P, Curia G, Becchetti A. Di Resta C, et al. Eur J Pharmacol. 2010 Sep 15;643(1):13-20. doi: 10.1016/j.ejphar.2010.05.063. Epub 2010 Jun 16. Eur J Pharmacol. 2010. PMID: 20561518
Carbamazepine (5H-dibenz[b,f]azepine-5-carboxamide) and oxcarbazepine (10,11-dihydro-10-oxo-5H-dibenz[b,f]azepine-5-carboxamide) are widely used for the treatment of partial epilepsy. ...Receptors in which alpha2 was substituted with alpha2-I279 N, linked to auto …
Carbamazepine (5H-dibenz[b,f]azepine-5-carboxamide) and oxcarbazepine (10,11-dihydro-10-oxo-5H-dibenz[b,f]azepine-5-carboxamid …
The identification of a novel mutation of nicotinic acetylcholine receptor gene CHRNB2 in a Chinese patient: Its possible implication in non-familial nocturnal frontal lobe epilepsy.
Liu H, Lu C, Li Z, Zhou S, Li X, Ji L, Lu Q, Lv R, Wu L, Ma X. Liu H, et al. Epilepsy Res. 2011 Jun;95(1-2):94-9. doi: 10.1016/j.eplepsyres.2011.03.002. Epub 2011 Apr 16. Epilepsy Res. 2011. PMID: 21497487
Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is partly caused by mutations in the nicotinic acetylcholine receptor (nAChR) genes CHRNA4, CHRNB2, and CHRNA2. ...To analyze the genetic features of sporadic NFLE, we designed m …
Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is partly caused by mutations in the n …
Evidence for S284L mutation of the CHRNA4 in a white family with autosomal dominant nocturnal frontal lobe epilepsy.
Rozycka A, Skorupska E, Kostyrko A, Trzeciak WH. Rozycka A, et al. Epilepsia. 2003 Aug;44(8):1113-7. doi: 10.1046/j.1528-1157.2003.07603.x. Epilepsia. 2003. PMID: 12887446 Free article.
PURPOSE: To identify mutations of the neuronal nicotinic acetylcholine receptor alpha4 subunit gene (CHRNA4) responsible for autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) in a group of white patients. METHODS: A group of 47 …
PURPOSE: To identify mutations of the neuronal nicotinic acetylcholine receptor alpha4 subunit gene (CHRNA4) responsible for autosomal …