A Gain-of-Function Mutation in KCNMA1 Causes Dystonia Spells Controlled With Stimulant Therapy.

Guohui ZhangRebecca A GibsonMarie McDonaldPengfei LiangPo Wei KangJingyi ShiHuanghe Yang Jianmin Cui Mohamad A Mikati

Published in: Movement disorders : official journal of the Movement Disorder Society (2020)

BK N536H is a gain-of-function that causes dystonia and other neurological symptoms. Our stimulant therapy opens a new avenue to mitigate KCNMA1-linked movement disorders. © 2020 International Parkinson and Movement Disorder Society.

Keyphrases

attention deficit hyperactivity disorder
deep brain stimulation
early onset
stem cells
autism spectrum disorder
brain injury
sleep quality
replacement therapy