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Prevalence of ALDH7A1 mutations in 18 North American pyridoxine-dependent seizure (PDS) patients

โœ Scribed by Craig L. Bennett; Yingzhang Chen; Sihoun Hahn; Ian A. Glass; Sidney M. Gospe Jr

Book ID
109110970
Publisher
Wiley (Blackwell Publishing)
Year
2009
Tongue
English
Weight
256 KB
Volume
50
Category
Article
ISSN
0013-9580

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Biochemical and molecular characterizati
Biochemical and molecular characterization of 18 patients with pyridoxine-dependent epilepsy and mutations of the antiquitin (ALDH7A1) gene
โœ Barbara Plecko; Karl Paul; Eduard Paschke; Sylvia Stoeckler-Ipsiroglu; Eduard St ๐Ÿ“‚ Article ๐Ÿ“… 2006 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 299 KB

## Communicated by Arnold Munnich Patients with pyridoxine dependent epilepsy (PDE) present with early-onset seizures resistant to common anticonvulsants. According to the benefit of pyridoxine (vitamin B 6 ) and recurrence of seizures on pyridoxine withdrawal, patients so far have been classified