New Therapeutic Approaches to Inherited Metabolic Pediatric Epilepsies
Author:
Affiliation:
1. From the Department of Neurology (P.L.P., I.T.L., H.H.C.L., A.R.), Boston Children's Hospital, Harvard Medical School, Boston, MA.
Publisher
Ovid Technologies (Wolters Kluwer Health)
Subject
Neurology (clinical)
Link
https://www.neurology.org/doi/pdfdirect/10.1212/WNL.0000000000207133
Reference60 articles.
1. Novel therapies for orphan diseases;Garcia Fernandez JM;ACS Med Chem Lett.,2019
2. Diagnostic yield of genetic testing in epileptic encephalopathy in childhood
3. Comprehensive next-generation sequence analyses of the entire mitochondrial genome reveal new insights into the molecular diagnosis of mitochondrial DNA disorders;Cui H;Genet Med.,2013
4. Mutations in antiquitin in individuals with pyridoxine-dependent seizures;Mills PB;Nat Med.,2006
5. Neonatal epileptic encephalopathy caused by mutations in the PNPO gene encoding pyridox(am)ine 5′-phosphate oxidase
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