Open AccessNovel metabolic signatures of compound heterozygous Szt2 variants in a case of early‐onset of epileptic encephalopathy
Author(s) -
Uittenbogaard Martine,
Gropman Andrea,
Brantner Christine A.,
Chiaramello Anne
Publication year - 2018
Publication title -
clinical case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.21
H-Index - 9
ISSN - 2050-0904
DOI - 10.1002/ccr3.1868
Subject(s) - medicine , compound heterozygosity , epilepsy , encephalopathy , disease , bioinformatics , genetics , mutation , gene , biology , psychiatry
Key Clinical Message 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 clinical implications for brain development and disease progression.