Intronic ATTTC repeat expansions in STARD7 cause familial adult myoclonic epilepsy linked to chromosome 2

Familial Adult Myoclonic Epilepsy (FAME) is characterised by cortical myoclonic tremor usually from the second decade of life and overt myoclonic or generalised tonic-clonic seizures. Four independent loci have been implicated in FAME on chromosomes (chr) 2, 3, 5 and 8. Our study combines whole genome sequencing and RNA-Seq data from cell lines derived from individuals living with FAME to identify the causative gene. The data provided here is RNA-Seq from fibroblasts from affeceted and unaffected individuals.