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An intronic GNAO1 variant leading to in-frame insertion cause movement disorder controlled by deep brain stimulation

Miyamoto, S; Nakashima, M; Fukumura, S; Kumada, S; Saitsu, H

Saitsu, H (通讯作者),Hamamatsu Univ Sch Med, Dept Biochem, Higashi Ku, 1-20-1 Handayama, Hamamatsu, Shizuoka 4313192, Japan.

NEUROGENETICS, 2022; 23 (2): 129

Abstract

GNAO1 variants are associated with a wide range of neurodevelopmental disorders including epileptic encephalopathies and movement disorders. It has be......

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