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The genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy due to mutations inALDH7A1

✍ Scribed by Gunter Scharer; Chad Brocker; Vasilis Vasiliou; Geralyn Creadon-Swindell; Renata C. Gallagher; Elaine Spector; Johan L. K. Van Hove

Book ID
106374657
Publisher
Springer
Year
2010
Tongue
English
Weight
537 KB
Volume
33
Category
Article
ISSN
0141-8955

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πŸ“œ SIMILAR VOLUMES

Biochemical and molecular characterizati
Biochemical and molecular characterization of 18 patients with pyridoxine-dependent epilepsy and mutations of the antiquitin (ALDH7A1) gene
✍ Barbara Plecko; Karl Paul; Eduard Paschke; Sylvia Stoeckler-Ipsiroglu; Eduard St πŸ“‚ Article πŸ“… 2006 πŸ› John Wiley and Sons 🌐 English βš– 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