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Quoted phrase not found in phrase index: "Autosomal dominant nocturnal frontal lobe epilepsy 1"
Page 1
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.
Many example illustrate the lack of impact of genetic information on the treatment outcome: we do not treat Dravet syndrome more successfully since SCN1A testing became available; we do not treat Lafora disease more successfully since testing for laforin and malin became availabl …
Many example illustrate the lack of impact of genetic information on the treatment outcome: we do not treat Dravet syndrome more successfull …
Autosomal dominant nocturnal frontal lobe epilepsy: an electroclinical study of a Norwegian family with ten affected members.
Nakken KO, Magnusson A, Steinlein OK. Nakken KO, et al. Epilepsia. 1999 Jan;40(1):88-92. doi: 10.1111/j.1528-1157.1999.tb01993.x. Epilepsia. 1999. PMID: 9924907 Free article.
PURPOSE: The aim of the study was to describe in detail the electroclinical findings associated with a mutation in the acetylcholine receptor in a Norwegian family with autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE). Furtherm …
PURPOSE: The aim of the study was to describe in detail the electroclinical findings associated with a mutation in the acetylcholine recepto …
A case of autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) coexisting with pervasive developmental disorder harboring SCN1A mutation in addition to CHRNB2 mutation.
Sone D, Sugawara T, Sakakibara E, Tomioka Y, Taniguchi G, Murata Y, Watanabe M, Kaneko S. Sone D, et al. Epilepsy Behav. 2012 Oct;25(2):192-5. doi: 10.1016/j.yebeh.2012.07.027. Epub 2012 Sep 29. Epilepsy Behav. 2012. PMID: 23032131
We report a case of autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) with several characteristics distinct from previously reported cases, in which genetic studies identified mutations in two different genes. ...However, the re …
We report a case of autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) with several chara …
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 …
Two Patients With KCNT1-Related Epilepsy Responding to Phenobarbital and Potassium Bromide.
Datta AN, Michoulas A, Guella I; EPGEN Study; Demos M. Datta AN, et al. J Child Neurol. 2019 Oct;34(12):728-734. doi: 10.1177/0883073819854853. Epub 2019 Jun 17. J Child Neurol. 2019. PMID: 31208268
KCNT1 encodes a sodium-activated potassium channel highly expressed in the brain, regulating hyperpolarization following repetitive firing. Mutations in KCNT1 were originally implicated in autosomal-dominant nocturnal frontal lobe epilepsy …
KCNT1 encodes a sodium-activated potassium channel highly expressed in the brain, regulating hyperpolarization following repetitive firing. …