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Browse result for Early infantile epileptic encephalopathy
※ introduction Ohtahara syndrome (OS), also known as Early Infantile Developmental & Epileptic Encephalopathy (EIDEE) is a progressive epileptic encephalopathy. The syndrome is outwardly characterized by tonic spasms and partial seizures within the first few months of life, and receives its more elaborate name from the pattern of burst activity on an electroencephalogram (EEG). It is an extremely debilitating progressive neurological disorder, involving intractable seizures and severe intellectual disabilities. No single cause has been identified, although in many cases structural brain damage is present.
Reference
Wiki: Early infantile epileptic encephalopathy
Reference
Wiki: Early infantile epileptic encephalopathy
| PTMD ID | UniProt Accession | Entrez ID | Gene Name | Protein Name | Organism |
|---|---|---|---|---|---|
| PTMD01090 | P35498 | 6323 | SCN1A | Sodium channel protein type 1 subunit alpha | Homo sapiens |
| PTMD01914 | Q9NZC7 | 51741 | WWOX | WW domain-containing oxidoreductase | Homo sapiens |
| PTMD02714 | O43526 | 3785 | KCNQ2 | Potassium voltage-gated channel subfamily KQT member 2 | Homo sapiens |
| PTMD02935 | O60741 | 34898 | HCN1 | Potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 1 | Homo sapiens |
| PTMD03246 | O76039 | 6792 | CDKL5 | Cyclin-dependent kinase-like 5 | Homo sapiens |
| PTMD03336 | O94989 | 22899 | ARHGEF15 | Rho guanine nucleotide exchange factor 15 | Homo sapiens |
| PTMD03928 | P09471 | 2775 | GNAO1 | Guanine nucleotide-binding protein G subunit alpha | Homo sapiens |
| PTMD05311 | P49588 | 16 | AARS1 | Alanine--tRNA ligase, cytoplasmic | Homo sapiens |
| PTMD05696 | P57059 | 10272 | SIK1 | Serine/threonine-protein kinase SIK1 | Homo sapiens |
| PTMD05821 | P61764 | 6812 | STXBP1 | Syntaxin-binding protein 1 | Homo sapiens |
| PTMD05836 | P61981 | 7532 | YWHAG | 14-3-3 protein gamma [Cleaved into: 14-3-3 protein gamma, N-terminally processed] | Homo sapiens |
| PTMD06227 | Q05639 | 1917 | EEF1A2 | Elongation factor 1-alpha 2 | Homo sapiens |
| PTMD06362 | Q11203 | 6487 | ST3GAL3 | CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase GlcNAc alpha-2,3 sialyltransferase) | Homo sapiens |
| PTMD06630 | Q13813 | 6709 | SPTAN1 | Spectrin alpha chain, non-erythrocytic 1 | Homo sapiens |
| PTMD06806 | Q14721 | 3745 | KCNB1 | Potassium voltage-gated channel subfamily B member 1 | Homo sapiens |
| PTMD09977 | Q8NCM2 | 27133 | KCNH5 | Potassium voltage-gated channel subfamily H member 5 | Homo sapiens |
| PTMD10227 | Q8TAB3 | 57526 | PCDH19 | Protocadherin-19 | Homo sapiens |
| PTMD11207 | Q96F07 | 26999 | CYFIP2 | Cytoplasmic FMR1-interacting protein 2 | Homo sapiens |
| PTMD11566 | Q96N67 | 85440 | DOCK7 | Dedicator of cytokinesis protein 7 | Homo sapiens |
| PTMD11691 | Q96QS3 | 17030 | ARX | Homeobox protein ARX | Homo sapiens |
| PTMD11785 | Q96T60 | 11284 | PNKP | Bifunctional polynucleotide phosphatase/kinase [Includes: Polynucleotide 3'-phosphatase -polynucleotidase); Polynucleotide 5'-hydroxyl-kinase ] | Homo sapiens |
| PTMD12967 | Q9H936 | 79751 | SLC25A22 | Mitochondrial glutamate carrier 1 symporter 1) | Homo sapiens |
| PTMD13204 | Q9NP73 | 79868 | ALG13 | UDP-N-acetylglucosamine transferase subunit ALG13 | Homo sapiens |
| PTMD13269 | Q9NQ66 | 23236 | PLCB1 | 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-1 | Homo sapiens |
| PTMD13694 | Q9NY47 | 9254 | CACNA2D2 | Voltage-dependent calcium channel subunit alpha-2/delta-2 [Cleaved into: Voltage-dependent calcium channel subunit alpha-2-2; Voltage-dependent calcium channel subunit delta-2] | Homo sapiens |
| PTMD14413 | Q9ULP9 | 57465 | TBC1D24 | TBC1 domain family member 24 | Homo sapiens |
| PTMD14582 | Q9UQD0 | 6334 | SCN8A | Sodium channel protein type 8 subunit alpha | Homo sapiens |
