Intronic atttc repeat expansions in stard7 in familial adult myoclonic epilepsy linked to chromosome 2

HIGHLIGHTS

• who: Mark A. Corbett from the (UNIVERSITY) have published the research: Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2, in the Journal: NATURE COMMUNICATIONS NATURE COMMUNICATIONS
• what: The authors demonstrate that the presence of the ATTTC repeat has no effect on protein or mRNA expression levels of STARD7 in available patient cell lines.

SUMMARY

| https://doi.org/10.1038/s41467-019-12671-y F AME (also referred to as Familial Cortical Myoclonic Tremor and Epilepsy or Benign Adult onset Familial Myoclonic Epilepsy ) is characterised . . .

 



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