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Neurological Insights on Two Siblings with GM3 Synthase Deficiency Due to Novel Compound Heterozygous ST3GAL5 Variants.

Shiena Watanabe,Ming Lei,Eiji Nakagawa,Eri Takeshita,Kei-Ichiro Inamori,Fumi Shishido,Masayuki Sasaki,Satomi Mitsuhashi,Naomichi Matsumoto,Yuiko Kimura,Masaki Iwasaki,Yuji Takahashi,Hidehiro Mizusawa,Ohsuke Migita,Isao Ohno,Jin-ichi Inokuchi

BRAIN & DEVELOPMENT（2023）

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关键词
Deep brain stimulation,Developmental delay,Epilepsy,Ganglioside,GM3 synthase deficiency,Involuntary movement,ST3GAL5
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