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Daniel Erskine

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Open access Aug 2026

Neuroinflammation and metabolic dysfunction in POLG-related mitochondrial epilepsy

Super-refractory status epilepticus is a common neurological manifestation of mitochondrial disease caused by bi-allelic pathogenic variants in POLG. Epilepsy in POLG-related disease typically presents with an explosive onset of status epilepticus, often from an occipital focus, and is associated with extensive neurode...

Laura A. Smith, Megan Wilson, Elsaid Mohamed Elsaid et al. · 0 citations

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