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Early mortality in SCN8A-related epilepsies.
Johannesen KM, Gardella E, Scheffer I, Howell K, Smith DM, Helbig I, Møller RS, Rubboli G. Johannesen KM, et al. Among authors: scheffer i. Epilepsy Res. 2018 Jul;143:79-81. doi: 10.1016/j.eplepsyres.2018.04.008. Epub 2018 Apr 13. Epilepsy Res. 2018. PMID: 29677576
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.
Gene expression analysis in absence epilepsy using a monozygotic twin design.
Helbig I, Matigian NA, Vadlamudi L, Lawrence KM, Bayly MA, Bain SM, Diyagama D, Scheffer IE, Mulley JC, Holloway AJ, Dibbens LM, Berkovic SF, Hayward NK. Helbig I, et al. Among authors: scheffer ie. Epilepsia. 2008 Sep;49(9):1546-54. doi: 10.1111/j.1528-1167.2008.01630.x. Epub 2008 Apr 24. Epilepsia. 2008. PMID: 18435749 Free article.
Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy: precedent for disorders with complex inheritance.
Dibbens LM, Mullen S, Helbig I, Mefford HC, Bayly MA, Bellows S, Leu C, Trucks H, Obermeier T, Wittig M, Franke A, Caglayan H, Yapici Z; EPICURE Consortium; Sander T, Eichler EE, Scheffer IE, Mulley JC, Berkovic SF. Dibbens LM, et al. Among authors: scheffer ie. Hum Mol Genet. 2009 Oct 1;18(19):3626-31. doi: 10.1093/hmg/ddp311. Epub 2009 Jul 10. Hum Mol Genet. 2009. PMID: 19592580 Free PMC article.
A duplication in 1q21.3 in a family with early onset and childhood absence epilepsy.
Muhle H, Steinich I, von Spiczak S, Franke A, Weber Y, Lerche H, Wittig M, Heidemann S, Suls A, de Jonghe P, Marini C, Guerrini R, Scheffer IE, Berkovic SF, Stephani U, Siebert R, Sander T, Helbig I, Tönnies H. Muhle H, et al. Among authors: scheffer ie. Epilepsia. 2010 Dec;51(12):2453-6. doi: 10.1111/j.1528-1167.2010.02712.x. Epub 2010 Sep 24. Epilepsia. 2010. PMID: 21204805 Free article.
A retrospective population-based study on seizures related to childhood vaccination.
von Spiczak S, Helbig I, Drechsel-Baeuerle U, Muhle H, van Baalen A, van Kempen MJ, Lindhout D, Scheffer IE, Berkovic SF, Stephani U, Keller-Stanislawski B. von Spiczak S, et al. Among authors: scheffer ie. Epilepsia. 2011 Aug;52(8):1506-12. doi: 10.1111/j.1528-1167.2011.03134.x. Epub 2011 Jun 21. Epilepsia. 2011. PMID: 21692791 Free article.
De novo SCN1A mutations in migrating partial seizures of infancy.
Carranza Rojo D, Hamiwka L, McMahon JM, Dibbens LM, Arsov T, Suls A, Stödberg T, Kelley K, Wirrell E, Appleton B, Mackay M, Freeman JL, Yendle SC, Berkovic SF, Bienvenu T, De Jonghe P, Thorburn DR, Mulley JC, Mefford HC, Scheffer IE. Carranza Rojo D, et al. Among authors: scheffer ie. Neurology. 2011 Jul 26;77(4):380-3. doi: 10.1212/WNL.0b013e318227046d. Epub 2011 Jul 13. Neurology. 2011. PMID: 21753172 Free PMC article.
670 results