Human | D2HGDH | 728294 | D-2-hydroxyglutarate dehydrogenase | Neonatal/early-infantile onset encephalopathy |
Human | NDUFAF2 | 91942 | NADH dehydrogenase (ubiquinone) complex I, assembly factor 2 | |
Human | SLC25A22 | 79751 | solute carrier family 25 (mitochondrial carrier: glutamate), member 22 | Evolution to severe encephalopathy |
Human | C20orf7 | 79133 | | |
Human | PDSS2 | 57107 | prenyl (decaprenyl) diphosphate synthase, subunit 2 | |
Human | ADCK3 | 56997 | aarF domain containing kinase 3 | |
Human | C10orf2 | 56652 | chromosome 10 open reading frame 2 | study reports a new phenotype in two siblings with compound heterozygous Twinkle mutations (A318T and Y508C), characterized by severe early onset encephalopathy and signs of liver involvement |
Human | APTX | 54840 | aprataxin | |
Human | NDUFAF4 | 29078 | NADH dehydrogenase (ubiquinone) complex I, assembly factor 4 | |
Human | COQ2 | 27235 | coenzyme Q2 4-hydroxybenzoate polyprenyltransferase | |
Human | PDSS1 | 23590 | prenyl (decaprenyl) diphosphate synthase, subunit 1 | |
Human | NTNG1 | 22854 | netrin G1 | Netrin G1 is not involved in atypical Rett syndrome or in unexplained encephalopathy with epilepsy, but in specific forms to be delineated better in the future |
Human | TREX1 | 11277 | three prime repair exonuclease 1 | Encephalopathy, progressive |
Human | TSFM | 10102 | Ts translation elongation factor, mitochondrial | |
Human | KYNU | 8942 | kynureninase | Nonprogressive encephalopathy |
Human | SUCLA2 | 8803 | succinate-CoA ligase, ADP-forming, beta subunit | Mutations in the SUCLA2 gene are associated with severe encephalopathy |
Human | TK2 | 7084 | thymidine kinase 2, mitochondrial | Mutations in the SUCLA2 gene are associated with severe encephalopathy |
Human | TH | 7054 | tyrosine hydroxylase | Homozygous tyrosine hydroxylase gene promoter mutation is associated with encephalopathy |
Human | SURF1 | 6834 | surfeit 1 | a SURF1 mutation may have a role in subacute encephalopathy |
Human | CDKL5 | 6792 | cyclin-dependent kinase-like 5 | screened entire coding region of CDKL5 in 151 affected girls with a heterogeneous phenotype ranging from encephalopathy with epilepsy to atypical Rett syndrome, and identified 3 novel missense mutations in catalytic domain Ala40Val, Arg65Gln, Leu220Pro |
Human | SLC22A5 | 6584 | solute carrier family 22 (organic cation/carnitine transporter), member 5 | |
Human | SCN1A | 6323 | sodium channel, voltage-gated, type I, alpha subunit | SCN1A mutations were identified in 11 of 14 patients with alleged vaccine encephalopathy; a diagnosis of a specific epilepsy syndrome was made in all 14 cases |
Human | SERPINI1 | 5274 | serpin peptidase inhibitor, clade I (neuroserpin), member 1 | Data show that the S49P mutant of neuroserpin that causes the dementia familial encephalopathy with neuroserpin inclusion bodies (FENIB) forms a latent species in vitro and in vivo in addition to the formation of polymers Mutant Neuroserpin (S49P) that causes familial encephalopathy with neuroserpin inclusion bodies is a poor proteinase inhibitor and readily forms polymers in vitro |
Human | NDUFV2 | 4729 | NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa | mutation causes early onset hypertrophic cardiomyopathy and encephalopathy |
Human | NDUFS6 | 4726 | NADH dehydrogenase (ubiquinone) Fe-S protein 6, 13kDa (NADH-coenzyme Q reductase) | |