Carregant...

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...

Descripció completa

Guardat en:
Dades bibliogràfiques
Publicat a:Clin Case Rep
Autors principals: Uittenbogaard, Martine, Gropman, Andrea, Brantner, Christine A., Chiaramello, Anne
Format: Artigo
Idioma:Inglês
Publicat: John Wiley and Sons Inc. 2018
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC6293145/
https://ncbi.nlm.nih.gov/pubmed/30564332
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ccr3.1868
Etiquetes: Afegir etiqueta
Sense etiquetes, Sigues el primer a etiquetar aquest registre!