Bilateral Pallidal Stimulation in a Family With Myoclonus Dystonia Syndrome Due to a Mutation in the Sarcoglycan Gene.

Michał SobstylAngelika Stapińska-SyniecJacek ZarembaMarta JurekAnna KupryjaniukMarcin Rylski

Published in: Neuromodulation : journal of the International Neuromodulation Society (2021)

Our experience gathered in three individuals in the family with a mutation in SGCE indicates that bilateral GPi DBS can be an effective and safe treatment for disabling pharmacological resistant, intractable M-D syndrome.

Keyphrases

deep brain stimulation
case report
early onset
genome wide
copy number
gene expression
genome wide identification