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 | PRND | 23627 | prion protein 2 (dublet) | Title:Polymorphisms within the prion-like protein gene (Prnd) and their implications in human prion diseases, Alzheimer's disease and other neurological disorders|Association:Not Found|Conclusion:Statistical analysis revealed a significant difference in the distribution of the Prnd genotype at codon 174 between sporadic CJD patients and healthy controls. |
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 | PRNP | 5621 | prion protein | Title:Does PRNP gene control the clinical and pathological phenotype of human spongiform transmissible encephalopathies?|Association:Y|Conclusion:The results of this study confirm that the different polymorphism at codon 129 of the PRNP gene, which could be involved in the structural domains of human PrP, might modulate the pathological phenotype of TSE. |
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 |