A case of succinic semialdehyde dehydrogenase deficiency with status epilepticus and rapid regression-Reference-Cited by-同舟云学术

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

Published:2016-10 Issue:9 Volume:38 Page:866-870
ISSN:0387-7604
Container-title:Brain and Development
language:en
Short-container-title:Brain and Development

Author:

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

Funder

Grant-in-Aid for Scientific Research

Grant-in-Aid for Challenging Exploratory Research

Grants for Scientific Research on Innovative Areas

MEXT

Practical Research Project for Rare/Intractable Diseases

AMED

Research on Measures for Intractable Diseases

Ministry of Health, Labor and Welfare, Intramural Research

Tokyo Medical and Dental University

Takeda Scientific Foundation

Publisher

Elsevier BV

Subject

Neurology (clinical),Developmental Neuroscience,General Medicine,Pediatrics, Perinatology and Child Health

Reference11 articles.

1. Thirty years beyond discovery–clinical trials in succinic semialdehyde dehydrogenase deficiency, a disorder of GABA metabolism;Vogel;J Inherit Metab Dis,2013

2. Epilepsy in succinic semialdehyde dehydrogenase deficiency, a disorder of GABA metabolism;Pearl;Brain Dev,2011

3. Succinic semialdehyde dehydrogenase: biochemical-molecular-clinical disease mechanisms, redox regulation, and functional significance;Kim;Antioxid Redox Signal,2011

4. Decreased GABA-A binding on FMZ-PET in succinic semialdehyde dehydrogenase deficiency;Pearl;Neurology,2009

5. A boy with a severe phenotype of succinic semialdehyde dehydrogenase deficiency;Yamakawa;Brain Dev,2012

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2. An Unusual Presentation of Succinic Semialdehyde Dehydrogenase Deficiency: A Fatal Case of Severe Progressive Seizures in a Four-Month-Old Infant;Cureus;2024-04-15

3. Reduced evoked cortical beta and gamma activity and neuronal synchronization in succinic semialdehyde dehydrogenase deficiency, a disorder of γ-aminobutyric acid metabolism;Brain Communications;2023

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