Pyridoxine-dependent epilepsy caused by an ALDH7A1 mutation in an infant girl: the first case report in Syria
Abstract 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 impac...
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| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
BMC
2024-11-01
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| Series: | BMC Neurology |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s12883-024-03936-1 |
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