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

ABSTRACT: 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.

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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