Have a personal or library account? Click to login
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
AHEAD OF PRINT
By: Stella Mouskou,  Katherine Anagnostopoulou,  Danae Bikouli,  Efstathia Paramera,  Evangelos Papakonstantinou,  Anastasia Korona,  Vasiliki Ziaka,  Mirsini Mavrikou and  Anastasia Skouma  
Open Access
|Sep 2022

Download Article

Download the full article as a PDF file.

DOI: https://doi.org/10.2478/joepi-2022-0003 | Journal eISSN: 2299-9728 | Journal ISSN: 2300-0147
Journal RSS Feed
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.

AHEAD OF PRINT