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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

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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

Journal of Epileptology

By: Stella Mouskou, Katherine Anagnostopoulou, Danae Bikouli, Efstathia Paramera, Evangelos Papakonstantinou, Anastasia Korona, Vasiliki Ziaka, Mirsini Mavrikou and Anastasia Skouma

Open Access

|Sep 2022

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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

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Accepted on: Aug 1, 2022

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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),

GHB (γ-hydroxybutyric acid),

GABA (γ-aminobutyric acid)

Related subjects:

Clinical medicine,

Clinical medicine, other,

Pharmacology, toxicology,

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.