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Genetics of familial adult myoclonus epilepsy: From linkage studies to noncoding repeat expansions by Mark A. Corbett; Christel Depienne; Liana Veneziano; Karl Martin Klein; Francesco Brancati; Renzo Guerrini; Federico Zara; Shoji Tsuji; Jozef Gecz is a Medicine article available to read on EtoBox.

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## Abstract 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__, __TNRC6A__, and __RAPGEF2__). FAME occurs worldwide; however, repeat expansions in particular genes have regional geographical distributions. FAME repeat expansions are dynamic in nature, changing in length and structure within germline and somatic tissues. This variation poses challenges for molecular diagnosis such that molecular methods used to identify FAME repeat expansions typically require a trade‐off between cost and efficiency. A rigorous evaluation of the sensitivity and specificity of each molecular approach remains to be performed. The origin of FAME repeat expansions and the genetic and environmental factors that modulate repeat variability are not well defined. Longer repeats and particular arrangements of the TTTTA and TTTCA motifs

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

Author

Mark A. Corbett; Christel Depienne; Liana Veneziano; Karl Martin Klein; Francesco Brancati; Renzo Guerrini; Federico Zara; Shoji Tsuji; Jozef Gecz

Publisher

John Wiley and Sons Inc.

Published

2023

Language

EN

Field

Medicine (Health Sciences)