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Two novel ALDH7A1 (antiquitin) splicing mutations associated with pyridoxine-dependent seizures

โœ Scribed by Pasquale Striano; Silvia Battaglia; Lucio Giordano; Giuseppe Capovilla; Francesca Beccaria; Eduard A. Struys; Gajja S. Salomons; Cornelis Jakobs


Book ID
109110909
Publisher
Wiley (Blackwell Publishing)
Year
2009
Tongue
English
Weight
220 KB
Volume
50
Category
Article
ISSN
0013-9580

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Biochemical and molecular characterizati
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