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Clinical and molecular characterization of KCNT1-related severe early-onset epilepsy.
McTague A, Nair U, Malhotra S, Meyer E, Trump N, Gazina EV, Papandreou A, Ngoh A, Ackermann S, Ambegaonkar G, Appleton R, Desurkar A, Eltze C, Kneen R, Kumar AV, Lascelles K, Montgomery T, Ramesh V, Samanta R, Scott RH, Tan J, Whitehouse W, Poduri A, Scheffer IE, Chong WKK, Cross JH, Topf M, Petrou S, Kurian MA. McTague A, et al. Among authors: scheffer ie. Neurology. 2018 Jan 2;90(1):e55-e66. doi: 10.1212/WNL.0000000000004762. Epub 2017 Dec 1. Neurology. 2018. PMID: 29196579 Free PMC article.
Genetics of human partial epilepsy.
Berkovic SF, Scheffer IE. Berkovic SF, et al. Among authors: scheffer ie. Curr Opin Neurol. 1997 Apr;10(2):110-4. doi: 10.1097/00019052-199704000-00007. Curr Opin Neurol. 1997. PMID: 9146992 Review.
Severe myoclonic epilepsy of infancy: extended spectrum of GEFS+?
Singh R, Andermann E, Whitehouse WP, Harvey AS, Keene DL, Seni MH, Crossland KM, Andermann F, Berkovic SF, Scheffer IE. Singh R, et al. Among authors: scheffer ie. Epilepsia. 2001 Jul;42(7):837-44. doi: 10.1046/j.1528-1157.2001.042007837.x. Epilepsia. 2001. PMID: 11488881 Free article.
Channelopathies as a genetic cause of epilepsy.
Mulley JC, Scheffer IE, Petrou S, Berkovic SF. Mulley JC, et al. Among authors: scheffer ie. Curr Opin Neurol. 2003 Apr;16(2):171-6. doi: 10.1097/01.wco.0000063767.15877.c7. Curr Opin Neurol. 2003. PMID: 12644745 Review.
The genetics of human epilepsy.
Scheffer IE, Berkovic SF. Scheffer IE, et al. Trends Pharmacol Sci. 2003 Aug;24(8):428-33. doi: 10.1016/S0165-6147(03)00194-9. Trends Pharmacol Sci. 2003. PMID: 12915053 Review.
LGI1 mutations in temporal lobe epilepsies.
Berkovic SF, Izzillo P, McMahon JM, Harkin LA, McIntosh AM, Phillips HA, Briellmann RS, Wallace RH, Mazarib A, Neufeld MY, Korczyn AD, Scheffer IE, Mulley JC. Berkovic SF, et al. Among authors: scheffer ie. Neurology. 2004 Apr 13;62(7):1115-9. doi: 10.1212/01.wnl.0000118213.94650.81. Neurology. 2004. PMID: 15079010
SCN1A mutations and epilepsy.
Mulley JC, Scheffer IE, Petrou S, Dibbens LM, Berkovic SF, Harkin LA. Mulley JC, et al. Among authors: scheffer ie. Hum Mutat. 2005 Jun;25(6):535-42. doi: 10.1002/humu.20178. Hum Mutat. 2005. PMID: 15880351 Review.
659 results