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ONTOLOGY REPORT - ANNOTATIONS


Term:early infantile epileptic encephalopathy 14
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Accession:DOID:0080439 term browser browse the term
Definition:An early infantile epileptic encephalopathy characterized by refractory focal seizures developing by 6 months of age and arrest of psychomotor development that has_material_basis_in heterozygous mutation in the KCNT1 gene on chromosome 9q34. (DO)
Synonyms:exact_synonym: EIEE14;   MMPSI;   malignant migrating partial seizures of infancy
 primary_id: OMIM:614959
 alt_id: RDO:9000294
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early infantile epileptic encephalopathy 14 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Camsap1 calmodulin regulated spectrin-associated protein 1 JBrowse link 3 3,373,971 3,434,027 RGD:8554872
G Card9 caspase recruitment domain family, member 9 JBrowse link 3 3,798,346 3,806,841 RGD:8554872
G Dnlz DNL-type zinc finger JBrowse link 3 3,796,480 3,798,467 RGD:8554872
G Entr1 endosome associated trafficking regulator 1 JBrowse link 3 3,827,498 3,834,219 RGD:8554872
G Gpsm1 G-protein signaling modulator 1 JBrowse link 3 3,767,394 3,794,360 RGD:8554872
G Inpp5e inositol polyphosphate-5-phosphatase E JBrowse link 3 3,843,307 3,856,154 RGD:8554872
G Kcnt1 potassium sodium-activated channel subfamily T member 1 JBrowse link 3 3,310,641 3,366,558 RGD:7240710
RGD:8554872
G Lhx3 LIM homeobox 3 JBrowse link 3 3,653,861 3,662,509 RGD:8554872
G Nacc2 NACC family member 2 JBrowse link 3 3,508,084 3,574,787 RGD:8554872
G Notch1 notch receptor 1 JBrowse link 3 3,905,562 3,951,015 RGD:8554872
G Pmpca peptidase, mitochondrial processing alpha subunit JBrowse link 3 3,834,262 3,842,061 RGD:8554872
G Qsox2 quiescin sulfhydryl oxidase 2 JBrowse link 3 3,662,324 3,691,972 RGD:8554872
G Scn2a sodium voltage-gated channel alpha subunit 2 JBrowse link 3 51,687,910 51,822,008 RGD:8554872
G Sec16a SEC16 homolog A, endoplasmic reticulum export factor JBrowse link 3 3,856,218 3,890,785 RGD:8554872
G Snapc4 small nuclear RNA activating complex, polypeptide 4 JBrowse link 3 3,808,596 3,827,425 RGD:8554872
G Tmem250 transmembrane protein 250 JBrowse link 3 3,590,783 3,594,475 RGD:8554872
G Ubac1 UBA domain containing 1 JBrowse link 3 3,453,396 3,476,242 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15626
    syndrome 5163
      electroclinical syndrome 333
        neonatal period electroclinical syndrome 190
          early infantile epileptic encephalopathy 181
            early infantile epileptic encephalopathy 14 17
Path 2
Term Annotations click to browse term
  disease 15626
    disease of anatomical entity 14956
      nervous system disease 10224
        sensory system disease 4685
          eye and adnexa disease 2253
            eye disease 2253
              visual pathway disease 649
                visual cortex disease 647
                  visual epilepsy 647
                    childhood onset epileptic encephalopathy 188
                      Infantile or Early Childhood Epileptic Encephalopathy 184
                        early infantile epileptic encephalopathy 181
                          early infantile epileptic encephalopathy 14 17
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.