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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1995 1
1996 1
1997 3
1998 4
1999 5
2000 7
2001 1
2002 4
2003 7
2004 2
2005 4
2006 2
2007 1
2008 6
2009 3
2011 1
2012 2
2013 2
2015 2
2016 1
2020 1
2021 1
2024 0

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57 results

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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 …
Role of genetics in the diagnosis and treatment of epilepsy.
Ferraro TN, Dlugos DJ, Buono RJ. Ferraro TN, et al. Expert Rev Neurother. 2006 Dec;6(12):1789-800. doi: 10.1586/14737175.6.12.1789. Expert Rev Neurother. 2006. PMID: 17181426 Review.
Thus, the discovery of KCNQ2 mutations in benign familial neonatal convulsions, SCN1A mutations in severe myoclonic epilepsy of infancy and in generalized epilepsy with febrile seizures plus, and CHRA4 and CHRB2 mutations in autosomal-dominant nocturnal fr …
Thus, the discovery of KCNQ2 mutations in benign familial neonatal convulsions, SCN1A mutations in severe myoclonic epilepsy of infancy and …
Genetics of the epilepsies: where are we and where are we going?
Helbig I, Lowenstein DH. Helbig I, et al. Curr Opin Neurol. 2013 Apr;26(2):179-85. doi: 10.1097/WCO.0b013e32835ee6ff. Curr Opin Neurol. 2013. PMID: 23429546 Free PMC article. Review.
Mutations in KCNT1 were found in two seemingly unrelated monogenic epilepsies including malignant migrating partial seizures of infancy and severe autosomal dominant nocturnal frontal lobe epilepsy. A genome-wide association study in idio …
Mutations in KCNT1 were found in two seemingly unrelated monogenic epilepsies including malignant migrating partial seizures of infancy and …
Recent advances on autosomal dominant nocturnal frontal lobe epilepsy: "understanding the nicotinic acetylcholine receptor (nAChR)".
di Corcia G, Blasetti A, De Simone M, Verrotti A, Chiarelli F. di Corcia G, et al. Eur J Paediatr Neurol. 2005;9(2):59-66. doi: 10.1016/j.ejpn.2004.12.006. Eur J Paediatr Neurol. 2005. PMID: 15843070 Review.
Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is characterized by clusters of nocturnal motor seizures, which are often stereotyped and brief. ...
Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is characterized by clusters of noctur …
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.
Scheffer IE. Scheffer IE. Epilepsia. 2000 Aug;41(8):1059-60. doi: 10.1111/j.1528-1157.2000.tb00298.x. Epilepsia. 2000. PMID: 10961640 Free article. Review. No abstract available.
Epilepsies with single gene inheritance.
Berkovic SF, Scheffer IE. Berkovic SF, et al. Brain Dev. 1997 Jan;19(1):13-8. doi: 10.1016/s0387-7604(96)00060-5. Brain Dev. 1997. PMID: 9071484 Review.
Recently, four autosomal dominant partial epilepsies have been described. In autosomal dominant nocturnal frontal lobe epilepsy a genetic defect in the alpha 4 subunit of the nicotinic acetylcholine receptor was found in one family. ...
Recently, four autosomal dominant partial epilepsies have been described. In autosomal dominant nocturnal frontal …
Nocturnal frontal lobe epilepsy with paroxysmal arousals due to CHRNA2 loss of function.
Conti V, Aracri P, Chiti L, Brusco S, Mari F, Marini C, Albanese M, Marchi A, Liguori C, Placidi F, Romigi A, Becchetti A, Guerrini R. Conti V, et al. Neurology. 2015 Apr 14;84(15):1520-8. doi: 10.1212/WNL.0000000000001471. Epub 2015 Mar 13. Neurology. 2015. PMID: 25770198 Free PMC article.
OBJECTIVE: We assessed the mutation frequency in nicotinic acetylcholine receptor (nAChR) subunits CHRNA4, CHRNB2, and CHRNA2 in a cohort including autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) and sporadic nocturnal frontal …
OBJECTIVE: We assessed the mutation frequency in nicotinic acetylcholine receptor (nAChR) subunits CHRNA4, CHRNB2, and CHRNA2 in a cohort in …
Genetics of human partial epilepsy.
Berkovic SF, Scheffer IE. Berkovic SF, et al. Curr Opin Neurol. 1997 Apr;10(2):110-4. doi: 10.1097/00019052-199704000-00007. Curr Opin Neurol. 1997. PMID: 9146992 Review.
The first genetic defect in an idiopathic epilepsy has been found in autosomal dominant nocturnal frontal lobe epilepsy, the archetype of this newly recognized group of inherited partial epilepsies....
The first genetic defect in an idiopathic epilepsy has been found in autosomal dominant nocturnal frontal lob …
57 results