Pyridoxine-dependent epilepsy: clinical features
Evidence-based neurology checklist on pyridoxine-dependent epilepsy: clinical features: 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…
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
Seizures
Postnatal features
Other neurological features
Developmental features
Gastrointestinal features
Metabolic features
Atypical phenotypes
Differential diagnosis
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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