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Genetics of familial adult myoclonus epilepsy: From linkage studies to noncoding repeat expansions

6 Apr 2023

Abstract excerpt

Familial adult myoclonus epilepsy (FAME) is a genetic epilepsy syndrome that for many years has resisted understanding of its underlying molecular cause. This review covers the history of FAME genetic studies worldwide, starting with linkage and culminating in the discovery of noncoding TTTTA and inserted TTTCA pentanucleotide repeat expansions within six different genes to date (SAMD12, STARD7, MARCHF6, YEATS2,...

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PMID: 37021642
DOI: 10.1111/epi.17610

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