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Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia.
Gorman KM, Meyer E, Grozeva D, Spinelli E, McTague A, Sanchis-Juan A, Carss KJ, Bryant E, Reich A, Schneider AL, Pressler RM, Simpson MA, Debelle GD, Wassmer E, Morton J, Sieciechowicz D, Jan-Kamsteeg E, Paciorkowski AR, King MD, Cross JH, Poduri A, Mefford HC, Scheffer IE, Haack TB, McCullagh G; Deciphering Developmental Disorders Study; UK10K Consortium; NIHR BioResource; Millichap JJ, Carvill GL, Clayton-Smith J, Maher ER, Raymond FL, Kurian MA. Gorman KM, et al. Among authors: scheffer ie. Am J Hum Genet. 2019 May 2;104(5):948-956. doi: 10.1016/j.ajhg.2019.03.005. Epub 2019 Apr 11. Am J Hum Genet. 2019. PMID: 30982612 Free PMC article.
Autosomal dominant nocturnal frontal-lobe epilepsy: genetic heterogeneity and evidence for a second locus at 15q24.
Phillips HA, Scheffer IE, Crossland KM, Bhatia KP, Fish DR, Marsden CD, Howell SJ, Stephenson JB, Tolmie J, Plazzi G, Eeg-Olofsson O, Singh R, Lopes-Cendes I, Andermann E, Andermann F, Berkovic SF, Mulley JC. Phillips HA, et al. Among authors: scheffer ie. Am J Hum Genet. 1998 Oct;63(4):1108-16. doi: 10.1086/302047. Am J Hum Genet. 1998. PMID: 9758605 Free PMC article.
Neuronal sodium-channel alpha1-subunit mutations in generalized epilepsy with febrile seizures plus.
Wallace RH, Scheffer IE, Barnett S, Richards M, Dibbens L, Desai RR, Lerman-Sagie T, Lev D, Mazarib A, Brand N, Ben-Zeev B, Goikhman I, Singh R, Kremmidiotis G, Gardner A, Sutherland GR, George AL Jr, Mulley JC, Berkovic SF. Wallace RH, et al. Among authors: scheffer ie. Am J Hum Genet. 2001 Apr;68(4):859-65. doi: 10.1086/319516. Epub 2001 Mar 13. Am J Hum Genet. 2001. PMID: 11254444 Free PMC article.
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.
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.
655 results