Mitochondrial polymerase gamma (POLG): clinical features
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Mitochondrial polymerase gamma (POLG): clinical features. Myoclonic epilepsy, Focal motor or visual seizures. Fully referenced neurology checklist.
Epilepsy: types
- Myoclonic epilepsy
- Focal motor or visual seizures
- Secondarily generalised seizures
- Refractory occipital lobe epilepsy (OLE)
- Late-onset epileptic encephalopathy
- Epilepsia partialis continua (EPC)
- Refractory status epilepticus (RSE)
- Fever related super-refractory status epilepticus (FIRES)
Other phenotypes
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Clinical features
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References
- Janssen W, Quaegebeur A, Van Goethem G, et al. The spectrum of epilepsy caused by POLG mutations. Acta Neurol Belg 2016; 116:17-25.
- Hammans S. Mitochondrial disease: old and new. ACNR 2008; 7:12-16.
- Engelsen BA, Tzoulis C, Karlsen B, et al. POLG1 mutations cause a syndromic epilepsy with occipital lobe predilection. Brain 2008; 131:818-828.
- Lemus HN, Pyburn D, Youn C, et al. Teaching NeuroImage: human polymerase gamma gene (POLG) disorder presenting as refractory status epilepticus. Neurology 2021; 97:e747-e748.
- Menon D, Marasakatla S, Holla VV, Kamble N, M N, Pal PK. Fever related super-refractory status epilepticus: An adulthood presentation of a novel POLG variant: a case report. Seizure 2022; 99:24-26.
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