Article
The genotypic spectrum of ALDH7A1 mutations resulting in pyridoxine dependent epilepsy: A common epileptic encephalopathy.
Journal of inherited metabolic disease - 1 Mar 2019
Coughlin Curtis R, Swanson Michael A, Spector Elaine, Meeks Naomi J L, Kronquist Kathryn E, Aslamy Mezhgan, Wempe Michael F, van Karnebeek Clara D M, Gospe Sidney M, Aziz Verena G, Tsai Becky P, Gao Hanlin, Nagy Peter L, Hyland Keith, van Dooren Silvy J M, Salomons Gajja S, Van Hove Johan L K
Abstract excerpt
Pyridoxine dependent epilepsy (PDE) is a treatable epileptic encephalopathy characterized by a positive response to pharmacologic doses of pyridoxine. Despite seizure control, at least 75% of individuals have intellectual disability and developmental delay. Current treatment paradigms have resulted in improved cognitive outcomes emphasizing the importance of an early diagnosis. As genetic testing is increasingly...
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