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Succinic semialdehyde dehydrogenase deficiency (SSADH-D) in an eleven-month-old infant with marked hypotonia and staring episodes: a case report Cover

Succinic semialdehyde dehydrogenase deficiency (SSADH-D) in an eleven-month-old infant with marked hypotonia and staring episodes: a case report

Journal of Epileptology
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By: Stella Mouskou,  Katherine Anagnostopoulou,  Danae Bikouli,  Efstathia Paramera,  Evangelos Papakonstantinou,  Anastasia Korona,  Vasiliki Ziaka,  Mirsini Mavrikou and  Anastasia Skouma  
Open Access
|Sep 2022
DOI: https://doi.org/10.2478/joepi-2022-0003 | Journal eISSN: 2299-9728 | Journal ISSN: 2300-0147
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Language: English
Submitted on: Feb 14, 2022
Accepted on: Aug 1, 2022
Published on: Sep 5, 2022
Published by: The Foundation of Epileptology
In partnership with: Paradigm Publishing Services
Publication frequency: 2 issues per year
Keywords:
SSADHD (Succinic semialdehyde dehydrogenase deficiency),
ALDH5A1 gene,
GHB (γ-hydroxybutyric acid),
GABA (γ-aminobutyric acid)
Related subjects:
Medicine,
Clinical medicine,
Clinical medicine, other,
Neurology,
Pharmacology, toxicology,
Pharmacy,
Clinical pharmacy

© 2022 Stella Mouskou, Katherine Anagnostopoulou, Danae Bikouli, Efstathia Paramera, Evangelos Papakonstantinou, Anastasia Korona, Vasiliki Ziaka, Mirsini Mavrikou, Anastasia Skouma, published by The Foundation of Epileptology
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

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