Article

Case Report: Re-investigating recurrent Refractory Status Epilepticus revealed POLG-Related Mitochondrial Disease

2026-08-06

Abstract excerpt

We present a case of a 21-year-old adult female with a history of chronic focal epilepsy and a learning disability presumed to be secondary to a traumatic brain injury due to shaken baby syndrome. She had a previous admission to a district general hospital with refractory status epilepticus precipitated by an infection, which was complicated by an apparent thalamic infarct. On this occasion she presented with supe...

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Literature Corpus work: d8a00900-c3af-5996-a93e-eefcd498fc2a
DOI: 10.12688/wellcomeopenres.27277.1

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