Atypical Vitamin B-6 Deficiency A Rare Cause of Unexplained Neonatal and Infantile Epilepsies

作者：Baumgart Anna; von Spiczak Sarah^*; Verhoeven Duif Nanda M; Moller Rikke S; Boor Rainer; Muhle Hiltrud; Jaehn Johanna A; Klitten Laura L; Hjalgrim Helle; Lindhout Dick; Stephani Ulrich; van Kempen Marjan J A; Helbig Ingo

来源：Journal of Child Neurology, 2014, 29(5): 704-707.

DOI：10.1177/0883073813505354

• Dravet syndrome
• vitamin B6-dependent epilepsy
• childhood epilepsy
• ALDH7A1 deficiency

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. %26quot;Hidden%26quot; vitamin B-6 deficiencies might be rare but treatable causes of unexplained epilepsy extending beyond the classical phenotypes.

• 出版日期2014-5