Table 1.

Gene defects and phenotypes associated with mitochondrial epilepsy.

Phenotypes	Genes	References
MELAS	MT-TL1 (3243A > G, 3271T > C), MT-ND5 (m.13513G > A)	[14]
MERRF	MT-TK (m.8344A> G, 8356T > C, 8363G > A, 8361G > A)	[15,16]
POLG-related disorders spectrum (MCHS, AHS, MEMSA, ANS)	POLG (c.1399G > A, c.2243G > C, c.2542G > A)	[17,18]
Leigh syndrome	>75 nuclear-encoded genes	[19]
MILS	MT-ATP6 (8993T > G)	[19,20]
Pyruvate dehydrogenase complex deficiency	PDHA, PDHB, LIAS, LIPT1, DLD, PDH	[21]
Others (Leigh-like syndrome, AHS, MDS, NAS encephalopathy)	NDUFA13, ATP5A1, NDUFAF2, NDUFAF3, NDUFAF4, ACAD9, SCO2, FASTKD2, COX10, COX15, TMEM70, ANT1, TYMP, SUCLA2, DGUOK, RRM2B, FBXL4, TFAM, CARS2, DARS2, NARS2, PARS2, RARS2, VARS2, TARS2, TSFM, GTPBP3, RMND1, MRPL12, COQ2, COQ5, COQ8A, COQ9, ETHE1, ATAD3, SLC25A22, AIFM1	[22,23,24,25,26,27,28,29,30,31,32,33,34,35,36,37,38,39,40,41,42,43,44,45,46,47,48,49,50,51,52,53,54,55,56]

MCHS: myocerebrohepatopathy, AHS: Alpers–Huttenlocher syndrome, MEMSA: myoclonus epilepsy myopathy sensory ataxia, ANS: ataxia neuropathy spectrum, MILS: maternal inherited Leigh syndrome, MDS: mtDNA depletion syndrome, NAS: not otherwise specified. The OMIM (https://www.omim.org) and MITOMAP databases (https://www.mitmap.org) were consulted on 28 September 2022.