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ONTOLOGY REPORT - ANNOTATIONS


Term:early infantile epileptic encephalopathy 1
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Accession:DOID:0080468 term browser browse the term
Definition:An early infantile epileptic encephalopathy characterized by X-linked recessive inheritance that has_material_basis_in mutation in the ARX gene on chromosome Xp21. (DO)
Synonyms:exact_synonym: EIEE1;   ISSX1;   X-linked Ohtahara syndrome;   X-linked West syndrome;   X-linked infantile spasm syndrome;   X-linked infantile spasm syndrome, 1;   X-linked infantile spasms;   XMESID;   early infantile epileptic encephalopathy;   infantile epileptic-dyskinetic encephalopathy
 primary_id: MESH:C567924
 alt_id: OMIM:308350;   RDO:0004590;   RDO:0015774
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early infantile epileptic encephalopathy 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aars alanyl-tRNA synthetase JBrowse link 8 111,027,778 111,055,569 RGD:8554872
G Alg13 asparagine-linked glycosylation 13 JBrowse link X 144,317,966 144,374,450 RGD:8554872
G Arx aristaless related homeobox JBrowse link X 93,286,507 93,298,357 RGD:7240710
RGD:8554872
RGD:11565838
RGD:11565846
G Cacna1a calcium channel, voltage-dependent, P/Q type, alpha 1A subunit JBrowse link 8 84,338,631 84,640,251 RGD:8554872
G Csnk1e casein kinase 1, epsilon JBrowse link 15 79,417,852 79,455,579 RGD:8554872
G Gabrb3 gamma-aminobutyric acid (GABA) A receptor, subunit beta 3 JBrowse link 7 57,590,518 57,828,802 RGD:8554872
G Gnao1 guanine nucleotide binding protein, alpha O JBrowse link 8 93,810,153 93,969,388 RGD:8554872
G Hcn1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 JBrowse link 13 117,602,320 117,981,028 RGD:11554173
G Maf avian musculoaponeurotic fibrosarcoma oncogene homolog JBrowse link 8 115,703,253 115,706,894 RGD:8554872
G Nrxn2 neurexin II JBrowse link 19 6,418,756 6,533,217 RGD:8554872
G Plcb1 phospholipase C, beta 1 JBrowse link 2 134,786,164 135,475,258 RGD:8554872
G Pola1 polymerase (DNA directed), alpha 1 JBrowse link X 93,304,766 93,632,387 RGD:8554872
G Scn1a sodium channel, voltage-gated, type I, alpha JBrowse link 2 66,270,781 66,440,837 RGD:8554872
G Slc35a2 solute carrier family 35 (UDP-galactose transporter), member A2 JBrowse link X 7,883,921 7,894,492 RGD:8554872
G St3gal3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3 JBrowse link 4 117,932,152 118,134,972 RGD:8554872
G Synj1 synaptojanin 1 JBrowse link 16 90,936,092 91,013,727 RGD:8554872
G Szt2 SZT2 subunit of KICSTOR complex JBrowse link 4 118,362,740 118,409,286 RGD:8554872
G Tbc1d24 TBC1 domain family, member 24 JBrowse link 17 24,175,431 24,205,562 RGD:8554872
G Wwox WW domain-containing oxidoreductase JBrowse link 8 114,439,635 115,352,712 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12524
    syndrome 4810
      electroclinical syndrome 322
        infantile or early childhood epileptic encephalopathy 1 20
          early infantile epileptic encephalopathy 1 19
Path 2
Term Annotations click to browse term
  disease 12524
    disease of anatomical entity 12143
      nervous system disease 9641
        sensory system disease 4457
          eye and adnexa disease 2196
            eye disease 2196
              visual pathway disease 634
                visual cortex disease 632
                  visual epilepsy 632
                    childhood onset epileptic encephalopathy 192
                      Infantile or Early Childhood Epileptic Encephalopathy 188
                        early infantile epileptic encephalopathy 185
                          early infantile epileptic encephalopathy 1 19
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.