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Quoted phrase not found in phrase index: "Autosomal dominant nocturnal frontal lobe epilepsy 3"
Page 1
Paroxysmal choreodystonic disorders.
Sohn YH, Lee PH. Sohn YH, et al. Handb Clin Neurol. 2011;100:367-73. doi: 10.1016/B978-0-444-52014-2.00028-8. Handb Clin Neurol. 2011. PMID: 21496595 Review.
They are classified into four categories according to the precipitant, duration of attacks, and etiology: (1) paroxysmal kinesigenic dyskinesia (PKD), in which attacks are brief and induced by sudden voluntary movements; (2) paroxysmal nonkinesigenic dyskinesia (PNKD), in which a …
They are classified into four categories according to the precipitant, duration of attacks, and etiology: (1) paroxysmal kinesigenic dyskine …
Debate: Does genetic information in humans help us treat patients? PRO--genetic information in humans helps us treat patients. CON--genetic information does not help at all.
Delgado-Escueta AV, Bourgeois BF. Delgado-Escueta AV, et al. Epilepsia. 2008 Dec;49 Suppl 9:13-24. doi: 10.1111/j.1528-1167.2008.01922.x. Epilepsia. 2008. PMID: 19087113 Free article. Review.
In order to improve treatment, genotyping would have to (1) improve our ability to select the drug of choice for a given epilepsy or epileptic syndrome; (2) improve our ability to predict the individual risk of adverse reactions to certain drugs; (3) improve our ability to …
In order to improve treatment, genotyping would have to (1) improve our ability to select the drug of choice for a given epilepsy or epilept …
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.
METHODS: A single-center, inpatient, order-randomized, blinded, placebo-controlled, crossover trial of oral quinidine included 6 patients with severe autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) due to KCNT1 mutation. ...Fo …
METHODS: A single-center, inpatient, order-randomized, blinded, placebo-controlled, crossover trial of oral quinidine included 6 patients wi …
Molecular modelling of the interactions of carbamazepine and a nicotinic receptor involved in the autosomal dominant nocturnal frontal lobe epilepsy.
Ortells MO, Barrantes GE. Ortells MO, et al. Br J Pharmacol. 2002 Jul;136(6):883-95. doi: 10.1038/sj.bjp.0704786. Br J Pharmacol. 2002. PMID: 12110613 Free PMC article.
The normal and a mutant (S248F) human neuronal alpha4beta2 nicotinic receptors, and their interaction with the channel blocker carbamazepine (CBZ) have been modelled. The mutant, responsible for the autosomal dominant nocturnal frontal lobe e …
The normal and a mutant (S248F) human neuronal alpha4beta2 nicotinic receptors, and their interaction with the channel blocker carbamazepine …
Malignant autosomal dominant frontal lobe epilepsy with repeated episodes of status epilepticus: successful treatment with vagal nerve stimulation.
Carreño M, Garcia-Alvarez D, Maestro I, Fernández S, Donaire A, Boget T, Rumià J, Pintor L, Setoain X. Carreño M, et al. Epileptic Disord. 2010 Jun;12(2):155-8. doi: 10.1684/epd.2010.0307. Epub 2010 May 18. Epileptic Disord. 2010. PMID: 20478764 Free article.
Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is a familial partial epilepsy syndrome characterized by seizures suggesting a frontal lobe origin occurring predominantly during sleep. ...We report a patient with ADNFLE, refra …
Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is a familial partial epilepsy syndrom …
The 1674+11C>T polymorphism of CHRNA4 is associated with juvenile myoclonic epilepsy.
Rozycka A, Steinborn B, Trzeciak WH. Rozycka A, et al. Seizure. 2009 Oct;18(8):601-3. doi: 10.1016/j.seizure.2009.06.007. Epub 2009 Jul 3. Seizure. 2009. PMID: 19577488 Free article.
The alpha4 subunit gene (CHRNA4) of the neuronal nicotinic acetylcholine receptor (nAChR), linked to an idiopathic partial epilepsy, autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE), may also play a key role in the development …
The alpha4 subunit gene (CHRNA4) of the neuronal nicotinic acetylcholine receptor (nAChR), linked to an idiopathic partial epilepsy, auto …
Mutational analysis of nicotinic acetylcholine receptor beta2 subunit gene (CHRNB2) in a representative cohort of Italian probands affected by autosomal dominant nocturnal frontal lobe epilepsy.
Duga S, Asselta R, Bonati MT, Malcovati M, Dalprà L, Oldani A, Zucconi M, Ferini-Strambi L, Tenchini ML. Duga S, et al. Epilepsia. 2002 Apr;43(4):362-4. doi: 10.1046/j.1528-1157.2002.39001.x. Epilepsia. 2002. PMID: 11952766 Free article.
Twenty-four autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) probands were analyzed for the presence of V287L and V287M mutations in the CHRNB2 gene, which have been recently associated with the disease. ...
Twenty-four autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) probands were analyzed for …
A missense mutation in the neuronal nicotinic acetylcholine receptor alpha 4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy.
Steinlein OK, Mulley JC, Propping P, Wallace RH, Phillips HA, Sutherland GR, Scheffer IE, Berkovic SF. Steinlein OK, et al. Nat Genet. 1995 Oct;11(2):201-3. doi: 10.1038/ng1095-201. Nat Genet. 1995. PMID: 7550350
Linkage has been reported for some generalised epilepsy syndromes, but only very recently for familial partial epilepsy syndromes. Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is a partial epilepsy causing frequent, violent …
Linkage has been reported for some generalised epilepsy syndromes, but only very recently for familial partial epilepsy syndromes. Autoso …
Association of the neuronal nicotinic acetylcholine receptor subunit alpha4 polymorphisms with febrile convulsions.
Chou IC, Lee CC, Huang CC, Wu JY, Tsai JJ, Tsai CH, Tsai FJ. Chou IC, et al. Epilepsia. 2003 Aug;44(8):1089-93. doi: 10.1046/j.1528-1157.2003.t01-1-44702.x. Epilepsia. 2003. PMID: 12887442 Free article.
PURPOSE: The alpha4-subunit gene of the neuronal nicotinic acetylcholine receptor (CHRNA4) has been identified as the first gene underlying an idiopathic partial epilepsy syndrome in human autosomal-dominant nocturnal frontal lobe epilepsy …
PURPOSE: The alpha4-subunit gene of the neuronal nicotinic acetylcholine receptor (CHRNA4) has been identified as the first gene underlying …