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...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:Eur J Hum Genet
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado em: Springer International Publishing 2020
Assuntos:
Brief Communication
Acesso em linha: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
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados