Novel metabolic signatures of compound heterozygous Szt2 variants in a case of early-onset of epileptic encephalopathy.
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ABSTRACT:
SUBMITTER: Uittenbogaard M
PROVIDER: S-EPMC6293145 | biostudies-literature | 2018 Dec
REPOSITORIES: biostudies-literature
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Novel metabolic signatures of compound heterozygous <i>Szt2</i> variants in a case of early-onset of epileptic encephalopathy.
Uittenbogaard Martine M Gropman Andrea A Brantner Christine A CA Chiaramello Anne A
Clinical case reports 20181025 12
Our study reports the case of a patient with early onset of epileptic encephalopathy harboring compound heterozygous <i>Szt2</i> variants. We provide the first evidence that these <i>Szt2</i> variants impair mitochondrial energy metabolism. Our results shed light on their pathogenic molecular mechanism and clinical implications for brain development and disease progression. ...[more]
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