Repeat expansions in myoclonic epilepsy

Marka Van Blitterswijk; Rosa Rademakers

doi:10.1038/s41588-018-0093-0

Repeat expansions in myoclonic epilepsy

Marka Van Blitterswijk, Rosa Rademakers

Neuroscience

Research output: Contribution to journal › Short survey › peer-review

Abstract

Noncoding expanded repeats have been implicated in a wide range of diseases. A new report uncovers expanded TTTCA and TTTTA repeats in an intronic region of SAMD12, and at least two other genes, in individuals with benign adult familial myoclonic epilepsy.

Original language	English (US)
Pages (from-to)	477-478
Number of pages	2
Journal	Nature Genetics
Volume	50
Issue number	4
DOIs	https://doi.org/10.1038/s41588-018-0093-0
State	Published - Apr 1 2018

ASJC Scopus subject areas

Genetics

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title = "Repeat expansions in myoclonic epilepsy",

abstract = "Noncoding expanded repeats have been implicated in a wide range of diseases. A new report uncovers expanded TTTCA and TTTTA repeats in an intronic region of SAMD12, and at least two other genes, in individuals with benign adult familial myoclonic epilepsy.",

author = "{Van Blitterswijk}, Marka and Rosa Rademakers",

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JO - Nature Genetics

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Repeat expansions in myoclonic epilepsy

Abstract

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