Ontology highlight
ABSTRACT:
SUBMITTER: Coughlin CR
PROVIDER: S-EPMC6345606 | biostudies-literature | 2019 Mar
REPOSITORIES: biostudies-literature
Coughlin Curtis R CR Swanson Michael A MA Spector Elaine E Meeks Naomi J L NJL Kronquist Kathryn E KE Aslamy Mezhgan M Wempe Michael F MF van Karnebeek Clara D M CDM Gospe Sidney M SM Aziz Verena G VG Tsai Becky P BP Gao Hanlin H Nagy Peter L PL Hyland Keith K van Dooren Silvy J M SJM Salomons Gajja S GS Van Hove Johan L K JLK
Journal of inherited metabolic disease 20190222 2
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 accepted as first tier testing for epileptic encephalopathies, we aimed to provide a ...[more]