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16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy.
Reinthaler EM, Lal D, Lebon S, Hildebrand MS, Dahl HH, Regan BM, Feucht M, Steinböck H, Neophytou B, Ronen GM, Roche L, Gruber-Sedlmayr U, Geldner J, Haberlandt E, Hoffmann P, Herms S, Gieger C, Waldenberger M, Franke A, Wittig M, Schoch S, Becker AJ, Hahn A, Männik K, Toliat MR, Winterer G; 16p11.2 European Consortium; Lerche H, Nürnberg P, Mefford H, Scheffer IE, Berkovic SF, Beckmann JS; EPICURE Consortium; EuroEPINOMICS Consortium; Sander T, Jacquemont S, Reymond A, Zimprich F, Neubauer BA. Reinthaler EM, et al. Among authors: berkovic sf. Hum Mol Genet. 2014 Nov 15;23(22):6069-80. doi: 10.1093/hmg/ddu306. Epub 2014 Jun 16. Hum Mol Genet. 2014. PMID: 24939913 Free article.
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.
Linkage and physical mapping of X-linked lissencephaly/SBH (XLIS): a gene causing neuronal migration defects in human brain.
Ross ME, Allen KM, Srivastava AK, Featherstone T, Gleeson JG, Hirsch B, Harding BN, Andermann E, Abdullah R, Berg M, Czapansky-Bielman D, Flanders DJ, Guerrini R, Motté J, Mira AP, Scheffer I, Berkovic S, Scaravilli F, King RA, Ledbetter DH, Schlessinger D, Dobyns WB, Walsh CA. Ross ME, et al. Hum Mol Genet. 1997 Apr;6(4):555-62. doi: 10.1093/hmg/6.4.555. Hum Mol Genet. 1997. PMID: 9097958
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.
737 results