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A case series summarizes seizure patterns, EEG changes, and ALDH7A1 variant findings in six children, emphasizing that early pyridoxine can normalize EEG and improve long-term outlook.
Even within PDE-ALDH7A1, families can see very different seizure types and severity. This report reviews six children treated from 2017 to 2023, with most starting seizures in the neonatal period and one in early infancy. The authors describe features clinicians often worry about: cluster seizures, heat sensitivity, and episodes of status epilepticus.
On EEG, several children showed serious patterns early on (including hypsarrhythmia and focal/multifocal discharges) that improved after vitamin B6 treatment, sometimes rapidly. The study also reports family histories consistent with severe early epilepsy in siblings in some cases.
Scientifically, the paper combines exome sequencing, Sanger confirmation, and phenotype-based variant interpretation to map ALDH7A1 variants in this cohort. It also raises a practical genetics point for regional populations: the authors suggest specific variants (c.1061A>G and c.1547A>G) may be relatively common in Chinese children with PDE. If confirmed in larger datasets, this can inform faster diagnosis pipelines and carrier testing strategies.
Why this matters
It highlights recognizable clinical clues (heat sensitivity, clusters, EEG patterns) and reminds us that EEG can be a measurable “response marker” after B6 treatment.
Limitations
This is a small case series from one center and cannot represent the full genetic and clinical spectrum across China or globally.
Sources
- “Analysis of clinical features and genetic variants in Chinese children with pyridoxine-dependent epilepsy: a case series study.” Frontiers in Neurology (2025). DOI: 10.3389/fneur.2025.1609600 (PubMed: 40979201; Free full text: PMC12443544)
Safety note: This summary is educational and not medical advice.
