Genetic screening in patients of Meige syndrome and blepharospasm.

Xinqi TengQiang QuYi ShuJiaoe GongBei XuJian Qu

Published in: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology (2022)

TOR1A rs1435566780 (c.*16G > C(G > A)) and THAP1 rs545930392 (c.192G > A[K64K]) may contribute to the etiology of MS and BSP. Other identified rare mutations predicted as deleterious probably damaging need further confirmation. Larger MS and BSP cohorts and functional studies will need to be performed further to elucidate the association between these genes and the diseases.

Keyphrases

mass spectrometry
end stage renal disease
multiple sclerosis
ms ms
newly diagnosed
ejection fraction
peritoneal dialysis
gene expression
case report
transcription factor
genome wide identification