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

Bennett, MF; Oliver, KL; Regan, BM; Bellows, ST; Schneider, AL; Rafehi, H; Sikta, N; Crompton, DE; Coleman, M; Hildebrand, MS; Corbett, MA; Kroes, T; Gecz, J; Scheffer, IE; Berkovic, SF; Bahlo, M

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

Version 2 2024-06-13, 13:44

Version 1 2021-03-23, 08:11

journal contribution

posted on 2024-06-13, 13:44 authored by MF Bennett, KL Oliver, BM Regan, ST Bellows, AL Schneider, H Rafehi, N Sikta, DE Crompton, M Coleman, MS Hildebrand, MA Corbett, T Kroes, J Gecz, IE Scheffer, SF Berkovic, M Bahlo

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

History

Journal

European Journal of Human Genetics

Volume

28

Pagination

973-978

Location

England

Publisher DOI

https://doi.org/10.1038/s41431-020-0606-z

Link to full text

https://www.nature.com/articles/s41431-020-0606-z.pdf

ISSN

1018-4813

eISSN

1476-5438

Language

en

Author URL

https://www.ncbi.nlm.nih.gov/pubmed/32203200

Publication classification

C2 Other contribution to refereed journal

Issue

7

Publisher

Springer Science and Business Media LLC

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Keywords

3105 Genetics 3209 Neurosciences

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

History

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Link to full text

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