In:
Journal of Child Neurology, SAGE Publications, Vol. 29, No. 5 ( 2014-05), p. 704-707
Abstract:
ALDH7A1 and PNPO deficiencies are rare inborn errors of vitamin B 6 metabolism causing perinatal seizure disorders. The phenotypic variability, however, is broad. To assess the frequency of these deficiencies in unexplained infantile epilepsy, we screened 113 patients for mutations in both genes. We identified 1 patient with an epilepsy phenotype resembling Dravet syndrome and likely pathogenic mutations in ALDH7A1. Presenting features were highly atypical of pyridoxine-dependent epilepsy, including febrile seizures, response to anticonvulsive drugs, and periods of seizure freedom without pyridoxine treatment. “Hidden” vitamin B 6 deficiencies might be rare but treatable causes of unexplained epilepsy extending beyond the classical phenotypes.
Type of Medium:
Online Resource
ISSN:
0883-0738
,
1708-8283
DOI:
10.1177/0883073813505354
Language:
English
Publisher:
SAGE Publications
Publication Date:
2014
detail.hit.zdb_id:
2068710-2
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