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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Bibliografische gegevens
Gepubliceerd in:Eur J Hum Genet
Hoofdauteurs: 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
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Springer International Publishing 2020
Onderwerpen:
Brief Communication
Online toegang: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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