Pyridoxine-dependent epilepsy: clinical features
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Pyridoxine-dependent epilepsy: clinical features. This is caused by mutations in the PNPO, ALPL, ALDHA1, and PLPBP genes.
Genetic features
- This is caused by mutations in the PNPO, ALPL, ALDHA1, and PLPBP genes
- These result in aldehyde dehydrogenase (antiquitin) deficiency
- The transmission is autosomal recessive
Antenatal features
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Seizures
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Postnatal features
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Other neurological features
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Developmental features
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Gastrointestinal features
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Metabolic features
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Atypical phenotypes
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Differential diagnosis
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References
- van Karnebeek CD, Tiebout SA, Niermeijer J, et al. Pyridoxine-dependent epilepsy: an expanding clinical spectrum. Pediatr Neurol 2016; 59:6-12.
- Mills PB, Footitt EJ, Mills KA, et al. Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency). Brain 2010; 133:2148-2159.
- Baxter P. Pyridoxine dependent and pyridoxine responsive seizures. Dev Med Child Neurol 2001; 43:416-420.
- Bok LA, Halbertsma FJ, Houterman S, et al. Long-term outcome in pyridoxine-dependent epilepsy. Dev Med Child Neurol 2012; 54:849-854.
- Baxter P. Epidemiology of pyridoxine dependent and pyridoxine responsive seizures in the UK. Arch Dis Child 1999; 81:431-433.
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