Unmasking the mitochondrial mystery: febrile illness exposing a rare cause of refractory epilepsy with unique imaging features: a case report
Abstract Background Mitochondrial DNA polymerase, which is encoded by the POLG (polymerase gamma) gene, is responsible for the replication of the mitochondrial genome. Around 300 pathogenic variants have been identified in this gene and the clinical impact of POLG mutations is highly variable in bot...
| Main Authors: | , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
SpringerOpen
2023-12-01
|
| Series: | The Egyptian Journal of Neurology, Psychiatry and Neurosurgery |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s41983-023-00769-6 |