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Mutations in KCNT1 cause a spectrum of focal epilepsies.
Møller RS, Heron SE, Larsen LH, Lim CX, Ricos MG, Bayly MA, van Kempen MJ, Klinkenberg S, Andrews I, Kelley K, Ronen GM, Callen D, McMahon JM, Yendle SC, Carvill GL, Mefford HC, Nabbout R, Poduri A, Striano P, Baglietto MG, Zara F, Smith NJ, Pridmore C, Gardella E, Nikanorova M, Dahl HA, Gellert P, Scheffer IE, Gunning B, Kragh-Olsen B, Dibbens LM. Møller RS, et al. Among authors: scheffer ie. Epilepsia. 2015 Sep;56(9):e114-20. doi: 10.1111/epi.13071. Epub 2015 Jun 30. Epilepsia. 2015. PMID: 26122718 Free PMC article.
Genetics of the epilepsies.
Berkovic SF, Scheffer IE. Berkovic SF, et al. Among authors: scheffer ie. Curr Opin Neurol. 1999 Apr;12(2):177-82. doi: 10.1097/00019052-199904000-00008. Curr Opin Neurol. 1999. PMID: 10226750 Review.
Genetics of the epilepsies.
Scheffer IE, Berkovic SF. Scheffer IE, et al. Curr Opin Pediatr. 2000 Dec;12(6):536-42. doi: 10.1097/00008480-200012000-00004. Curr Opin Pediatr. 2000. PMID: 11106271 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.
Genetics of the epilepsies.
Berkovic SF, Scheffer IE. Berkovic SF, et al. Among authors: scheffer ie. Epilepsia. 2001;42 Suppl 5:16-23. doi: 10.1046/j.1528-1157.2001.0420s5016.x. Epilepsia. 2001. PMID: 11887962 Free article. Review.
Sodium-channel defects in benign familial neonatal-infantile seizures.
Heron SE, Crossland KM, Andermann E, Phillips HA, Hall AJ, Bleasel A, Shevell M, Mercho S, Seni MH, Guiot MC, Mulley JC, Berkovic SF, Scheffer IE. Heron SE, et al. Among authors: scheffer ie. Lancet. 2002 Sep 14;360(9336):851-2. doi: 10.1016/S0140-6736(02)09968-3. Lancet. 2002. PMID: 12243921
659 results