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Journal of Epileptology
AHEAD OF PRINT
Open Access
Succinic semialdehyde dehydrogenase deficiency (SSADH-D) in an eleven-month-old infant with marked hypotonia and staring episodes: a case report
Stella Mouskou
Stella Mouskou
,
Katherine Anagnostopoulou
Katherine Anagnostopoulou
,
Danae Bikouli
Danae Bikouli
,
Efstathia Paramera
Efstathia Paramera
,
Evangelos Papakonstantinou
Evangelos Papakonstantinou
,
Anastasia Korona
Anastasia Korona
,
Vasiliki Ziaka
Vasiliki Ziaka
,
Mirsini Mavrikou
Mirsini Mavrikou
and
Anastasia Skouma
Anastasia Skouma
| Sep 05, 2022
Journal of Epileptology
AHEAD OF PRINT
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Article Category:
Case report
Published Online:
Sep 05, 2022
Page range:
-
Received:
Feb 14, 2022
Accepted:
Aug 01, 2022
DOI:
https://doi.org/10.2478/joepi-2022-0003
Keywords
SSADHD (Succinic semialdehyde dehydrogenase deficiency)
,
ALDH5A1 gene
,
GHB (γ-hydroxybutyric acid)
,
GABA (γ-aminobutyric acid)
© 2022 Stella Mouskou, published by Sciendo
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.