Two Siblings With Valproate-Related Hyperammonemia and Novel Mutations in Glutamine Synthetase (GLUL) Treated With Carglumic Acid

This case report describes 2 siblings with myoclonic epilepsy who had novel mutations in the glutamine synthetase (GLUL) gene: c.316C>T, p.(Arg106*) and c.42G>C, p.(Lys14Asn). Valproic acid improved seizure control, but was associated with hyperammonemic encephalopathy. Addition of carglumic a...

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Detalles Bibliográficos
Autores principales: Bennett, Jennifer, Gilkes, Christy, Klassen, Karin, Kerr, Marina, Khan, Aneal
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7585879/
https://www.ncbi.nlm.nih.gov/pubmed/33150193
http://dx.doi.org/10.1177/2329048X20967880

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7585879/
https://www.ncbi.nlm.nih.gov/pubmed/33150193
http://dx.doi.org/10.1177/2329048X20967880

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