Treatable neonatal epilepsy
- PMID: 17642476
- PMCID: PMC2083881
- DOI: 10.1136/adc.2007.116913
Treatable neonatal epilepsy
Abstract
Perspective on the paper by Bok et al (see page 687)
Conflict of interest statement
Competing interests: None.
Comment on
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Pyridoxine-dependent seizures in Dutch patients: diagnosis by elevated urinary alpha-aminoadipic semialdehyde levels.Arch Dis Child. 2007 Aug;92(8):687-9. doi: 10.1136/adc.2006.103192. Epub 2006 Nov 6. Arch Dis Child. 2007. PMID: 17088338 Free PMC article.
References
-
- Baxter P, Griffiths P, Kelly T.et al Pyridoxine‐dependent seizures: demographic, clinical, MRI and psychometric features, and effect of dose on intelligence quotient. Dev Med Child Neurol 199638998–1006. - PubMed
-
- Mills P B, Struys E, Jakobs C.et al Mutations in antiquitin in individuals with pyridoxine‐dependent seizures. Nat Med 200612307–309. - PubMed
-
- Plecko B, Hikel C, Korenke G C.et al Pipecolic acid as a diagnostic marker of pyridoxine‐dependent epilepsy. Neuropediatrics 200536200–205. - PubMed
-
- Mills P B, Surtees R A, Champion M P.et al Neonatal epileptic encephalopathy caused by mutations in the PNPO gene encoding pyridox(am)ine 5′‐phosphate oxidase. Hum Mol Genet 2005141077–1086. - PubMed
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