Atypical pyridoxine-dependent epilepsy due to a pseudoexon in ALDH7A1

✍ Scribed by Mathieu Milh; Ana Pop; Warsha Kanhai; Nathalie Villeneuve; Aline Cano; Eduard A. Struys; Gajja S. Salomons; Brigitte Chabrol; Cornelis Jakobs

• Book ID: 116989715
• Publisher: Elsevier Science
• Year: 2012
• Tongue: English
• Weight: 136 KB
• Volume: 105
• Category: Article
• ISSN: 1096-7192
• DOI: 10.1016/j.ymgme.2012.01.011