Novel metabolic signatures of compound heterozygous Szt2 variants in a case of early‐onset of epileptic encephalopathy

Our study reports the case of a patient with early onset of epileptic encephalopathy harboring compound heterozygous Szt2 variants. We provide the first evidence that these Szt2 variants impair mitochondrial energy metabolism. Our results shed light on their pathogenic molecular mechanism and clinic...

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Detalles Bibliográficos
Autores principales: Uittenbogaard, Martine, Gropman, Andrea, Brantner, Christine A., Chiaramello, Anne
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2018
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6293145/
https://www.ncbi.nlm.nih.gov/pubmed/30564332
http://dx.doi.org/10.1002/ccr3.1868

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6293145/
https://www.ncbi.nlm.nih.gov/pubmed/30564332
http://dx.doi.org/10.1002/ccr3.1868

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