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Diagnostic Utility of Genome-wide DNA Methylation Analysis in Genetically Unsolved Developmental and Epileptic Encephalopathies and Refinement of a CHD2 Episignature.
LaFlamme CW, Rastin C, Sengupta S, Pennington HE, Russ-Hall SJ, Schneider AL, Bonkowski ES, Almanza Fuerte EP, Galey M, Goffena J, Gibson SB, Allan TJ, Nyaga DM, Lieffering N, Hebbar M, Walker EV, Darnell D, Olsen SR, Kolekar P, Djekidel N, Rosikiewicz W, McConkey H, Kerkhof J, Levy MA, Relator R, Lev D, Lerman-Sagie T, Park KL, Alders M, Cappuccio G, Chatron N, Demain L, Genevieve D, Lesca G, Roscioli T, Sanlaville D, Tedder ML, Hubshman MW, Ketkar S, Dai H, Worley KC, Rosenfeld JA, Chao HT; Undiagnosed Diseases Network; Neale G, Carvill GL; University of Washington Center for Rare Disease Research; Wang Z, Berkovic SF, Sadleir LG, Miller DE, Scheffer IE, Sadikovic B, Mefford HC. LaFlamme CW, et al. Among authors: scheffer ie. medRxiv [Preprint]. 2023 Oct 12:2023.10.11.23296741. doi: 10.1101/2023.10.11.23296741. medRxiv. 2023. PMID: 37873138 Free PMC article. Preprint.
Epilepsies with single gene inheritance.
Berkovic SF, Scheffer IE. Berkovic SF, et al. Among authors: scheffer ie. Brain Dev. 1997 Jan;19(1):13-8. doi: 10.1016/s0387-7604(96)00060-5. Brain Dev. 1997. PMID: 9071484 Review.
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.
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.
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.
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.
625 results