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1998 3
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Quoted phrase not found in phrase index: "Autosomal dominant nocturnal frontal lobe epilepsy 3"
Page 1
Nocturnal frontal lobe epilepsy and the acetylcholine receptor.
Ferini-Strambi L, Sansoni V, Combi R. Ferini-Strambi L, et al. Neurologist. 2012 Nov;18(6):343-9. doi: 10.1097/NRL.0b013e31826a99b8. Neurologist. 2012. PMID: 23114665 Review.
In 1994, authors reported families with NFLE inherited as an autosomal dominant trait and they introduced the term of autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE). A family history of possible NFLE is found in about 25% of …
In 1994, authors reported families with NFLE inherited as an autosomal dominant trait and they introduced the term of autosomal do …
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. ...
Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is an idiopathic epilepsy, with a spec …
Genes associated with idiopathic epilepsies: a current overview.
Lu Y, Wang X. Lu Y, et al. Neurol Res. 2009 Mar;31(2):135-43. doi: 10.1179/174313209X393942. Neurol Res. 2009. PMID: 19298753 Review.
RESULTS: Mutations in the cholinergic receptor, neuronal nicotinic, alpha2, alpha4 and beta2 subunit genes have been found in autosomal dominant nocturnal frontal lobe epilepsy. Mutations of potassium voltage-gated channel, KQT-like subfa …
RESULTS: Mutations in the cholinergic receptor, neuronal nicotinic, alpha2, alpha4 and beta2 subunit genes have been found in autosomal …
Autosomal dominant nocturnal frontal lobe epilepsy with a mutation in the CHRNB2 gene.
Díaz-Otero F, Quesada M, Morales-Corraliza J, Martínez-Parra C, Gómez-Garre P, Serratosa JM. Díaz-Otero F, et al. Epilepsia. 2008 Mar;49(3):516-20. doi: 10.1111/j.1528-1167.2007.01328.x. Epub 2007 Sep 26. Epilepsia. 2008. PMID: 17900292 Free article.
Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE; MIM 600513) has been associated with mutations in the genes coding for the alfa-4 (CHRNA4), beta-2 (CHRNB2), and alpha-2 (CHRNA2) subunits of the neuronal nicotinic acetylcholine …
Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE; MIM 600513) has been associated with m …
Hyperkinetic seizures in children.
Weinstock A, Giglio P, Kerr SL, Duffner PK, Cohen ME. Weinstock A, et al. J Child Neurol. 2003 Aug;18(8):517-24. doi: 10.1177/08830738030180080801. J Child Neurol. 2003. PMID: 13677576
There were three boys and two girls; the mean age at presentation was 10 +/- 3 years. In four patients, there was a history of behavioral disorder, with two patients carrying a diagnosis of attention-deficit hyperactivity disorder (ADHD). ...Based on the clinical history, …
There were three boys and two girls; the mean age at presentation was 10 +/- 3 years. In four patients, there was a history of behavi …
Frontal lobe epilepsy and mutations of the corticotropin-releasing hormone gene.
Combi R, Dalprà L, Ferini-Strambi L, Tenchini ML. Combi R, et al. Ann Neurol. 2005 Dec;58(6):899-904. doi: 10.1002/ana.20660. Ann Neurol. 2005. PMID: 16222669
In one Italian nocturnal frontal lobe epilepsy family, we identified two new putative loci on chromosomes 3 and 8, where several candidate genes are mapped. In particular, on chromosome 8, corticotropin-releasing hormone gene (CRH) appears to be a good candidate. ...In vit …
In one Italian nocturnal frontal lobe epilepsy family, we identified two new putative loci on chromosomes 3 and 8, where several cand …
Autosomal dominant nocturnal frontal lobe epilepsy in a Spanish family with a Ser252Phe mutation in the CHRNA4 gene.
Sáenz A, Galán J, Caloustian C, Lorenzo F, Márquez C, Rodríguez N, Jiménez MD, Poza JJ, Cobo AM, Grid D, Prud'homme JF, López de Munain A. Sáenz A, et al. Arch Neurol. 1999 Aug;56(8):1004-9. doi: 10.1001/archneur.56.8.1004. Arch Neurol. 1999. PMID: 10448807
BACKGROUND: A large family with autosomal dominant nocturnal frontal lobe epilepsy from the south of Spain was studied. ...CONCLUSIONS: These data confirm the clinical homogeneity in the phenotypic expression of autosomal domina …
BACKGROUND: A large family with autosomal dominant nocturnal frontal lobe epilepsy from the south …
Reduced striatal D1 receptor binding in autosomal dominant nocturnal frontal lobe epilepsy.
Fedi M, Berkovic SF, Scheffer IE, O'Keefe G, Marini C, Mulligan R, Gong S, Tochon-Danguy H, Reutens DC. Fedi M, et al. Neurology. 2008 Sep 9;71(11):795-8. doi: 10.1212/01.wnl.0000316192.52731.77. Epub 2008 Aug 6. Neurology. 2008. PMID: 18685138
BACKGROUND: Mutations of the neuronal nicotinic acetylcholine (nACh) receptor identified in patients with autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) lead to increased sensitivity to ACh. ...Alterations in mesostriatal dop …
BACKGROUND: Mutations of the neuronal nicotinic acetylcholine (nACh) receptor identified in patients with autosomal dominant …
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 …
Mutation Linked to Autosomal Dominant Nocturnal Frontal Lobe Epilepsy Reduces Low-Sensitivity alpha4beta2, and Increases alpha5alpha4beta2, Nicotinic Receptor Surface Expression.
Nichols WA, Henderson BJ, Marotta CB, Yu CY, Richards C, Dougherty DA, Lester HA, Cohen BN. Nichols WA, et al. PLoS One. 2016 Jun 23;11(6):e0158032. doi: 10.1371/journal.pone.0158032. eCollection 2016. PLoS One. 2016. PMID: 27336596 Free PMC article.
A number of mutations in alpha4beta2-containing (alpha4beta2*) nicotinic acetylcholine (ACh) receptors (nAChRs) are linked to autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE), including one in the beta2 subunit called beta2V287 …
A number of mutations in alpha4beta2-containing (alpha4beta2*) nicotinic acetylcholine (ACh) receptors (nAChRs) are linked to autosomal …
19 results