A case of succinic semialdehyde dehydrogenase deficiency with status epilepticus and rapid regression.

Asako Horino,Hisashi Kawawaki,Masataka Fukuoka,Hitomi Tsuji,Yuka Hattori,Takeshi Inoue,Megumi Nukui,Ichiro Kuki,Shin Okazaki,Kiyotaka Tomiwa,Shinichi Hirose

Brain and Development（2016）

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摘要

IMZ-SPECT findings demonstrated reduced benzodiazepine receptor binding and its dynamic changes in an SSADH-deficient patient. Considering the down regulation of the GABAA receptor, ketamine should be included in pharmacotherapeutic strategies for treatment of refractory status epilepticus in SSADH-deficient patients.

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关键词

SSADH deficiency,Refractory status epilepticus,Ketamine,1234-Hydroxybutyric aciduria,Gamma-hydroxybutyric aciduria

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