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Article

Pyridoxine-dependent epilepsy caused by an ALDH7A1 mutation in an infant girl: the first case report in Syria.

BMC neurology - 5 Nov 2024

Jaber Rida, Salame Hadi, Zeindeen Mostafa, Jawad Ali, Fawaz Hassan, Alasmar Diana

Abstract excerpt

BACKGROUND: Pyridoxine-dependent epilepsy is primarily characterized by early-onset refractory seizures. This condition can be caused by alpha-aminoadipic semialdehyde dehydrogenase deficiency due to a mutation in the ALDH7A1 gene, leading to the accumulation of certain substances that impact the production of various brain neurotransmitters and enzymes. CASE PRESENTATION: Our report presents the first documented...

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Identifiers

PMID: 39501195
DOI: 10.1186/s12883-024-03936-1
PMCID: PMC11536958

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