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Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3
- Source :
- Nature Communications, Vol 10, Iss 1, Pp 1-14 (2019)
- Publication Year :
- 2019
- Publisher :
- Nature Portfolio, 2019.
-
Abstract
- Familial cortical myoclonic tremor with epilepsy (FAME) is a slowly progressing cortical tremor mapping to various genomic loci, including intronic expansions in SAMD12 for FAME1. Here, Florian et al. describe mixed intronic TTTTA/TTTCA expansions of various lengths in the first intron of MARCH6 as a cause of FAME3.
- Subjects :
- Science
Subjects
Details
- Language :
- English
- ISSN :
- 20411723
- Volume :
- 10
- Issue :
- 1
- Database :
- Directory of Open Access Journals
- Journal :
- Nature Communications
- Publication Type :
- Academic Journal
- Accession number :
- edsdoj.2f5cdb4c14f6434cb404877f2fe7a12e
- Document Type :
- article
- Full Text :
- https://doi.org/10.1038/s41467-019-12763-9