POLG mutation setting off 'FIRES'

Seizure. 2023 Jan:104:41-42. doi: 10.1016/j.seizure.2022.07.017. Epub 2022 Jul 26.

Authors

Deepak Menon¹, Vikram V Holla², Pramod K Pal²

Affiliations

¹ Department of Neurology, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, Karnataka 560 029, India. Electronic address: menondeepak101@gmail.com.
² Department of Neurology, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, Karnataka 560 029, India.

PMID: 35965220
DOI: 10.1016/j.seizure.2022.07.017

No abstract available

Keywords: Case report; FIRES; Mitochondrial disorders; Novel variant; POLG.

Publication types

Letter

MeSH terms

DNA Polymerase gamma / genetics
Humans
Mutation* / genetics

Substances

DNA Polymerase gamma
POLG protein, human