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

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 orig...

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Vydáno v:Eur J Hum Genet
Hlavní autoři: 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
Médium: Artigo
Jazyk:Inglês
Vydáno: Springer International Publishing 2020
Témata:
Brief Communication
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC7316749/
https://ncbi.nlm.nih.gov/pubmed/32203200
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41431-020-0606-z
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