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Article

Familial adult myoclonic epilepsy type 1 SAMD12 TTTCA repeat expansion arose 17,000 years ago and is present in Sri Lankan and Indian families.

European journal of human genetics : EJHG - 1 Jul 2020

Bennett Mark F, Oliver Karen L, Regan Brigid M, Bellows Susannah T, Schneider Amy L, Rafehi Haloom, Sikta Neblina, Crompton Douglas E, Coleman Matthew, Hildebrand Michael S, Corbett Mark A, Kroes Thessa, Gecz Jozef, Scheffer Ingrid E, Berkovic Samuel F, Bahlo Melanie

Abstract excerpt

Familial adult myoclonic epilepsy 1 (FAME1), first recognised in Japanese families, was recently shown to be caused by a TTTCA repeat insertion in intron 4 of SAMD12 on chromosome 8. We performed whole genome sequencing on two families with FAME, one of Sri Lankan origin and the other of Indian origin, and identified a TTTCA repeat insertion in SAMD12 in both families. Haplotype analysis revealed that both...

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PMID: 32203200
DOI: 10.1038/s41431-020-0606-z
PMCID: PMC7316749

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