What question did this study set out to answer?

To investigate a case of new-onset status epilepticus in a patient with a family history of MELAS syndrome despite negative mtDNA testing.

April 1, 2026

Middle‐aged woman presenting with new‐onset status epilepticus and family history of MELAS syndrome but negative mtDNA testing

Key Points

To investigate a case of new-onset status epilepticus in a patient with a family history of MELAS syndrome despite negative mtDNA testing.
Clinical evaluation of symptoms and medical history
Assessment of family history regarding MELAS syndrome
Conducted mtDNA testing and analysis
The patient presented with status epilepticus without identifiable mtDNA mutations
Family history suggested a connection to MELAS syndrome
Negative mtDNA testing indicates potential for non-mitochondrial factors in this case.

Abstract

The authors have no relevant financial or non-financial interests to disclose. Data sharing not applicable to this article as no datasets were generated or analysed during the current study. Data S1. Data S2. Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article.

Middle‐aged woman presenting with new‐onset status epilepticus and family history of MELAS syndrome but negative mtDNA testing

Key Points

Abstract

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