Summary Literature (0)

DOID:0050709 - early infantile epileptic encephalopathy

Disease Ontology Definition:A neonatal period electroclinical syndrome that is characterized by tonic spasms and partial seizures.

Synonyms: Early Infantile Epileptic Encephalopathy , Early Infantile Epileptic Encephalopathy with Burst-Suppression, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 15

Xenbase Genes : arx, gnao1, stxbp1, pigp, cdkl5, arhgef9, sptan1, trim8, neurod2, kcna1, scn8a, slc25a22, cask, pcdh19, pigq, [+]

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0016021 - obsolete early infantile epileptic encephalopathy

MIM:

MIM:300088 - DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 9; DEE9

MIM:300607 - DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 8; DEE8

MIM:300672 - DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 2; DEE2

MIM:308350 - DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 1; DEE1

MIM:609304 - DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 3; DEE3

MIM:612164 - DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 4; DEE4

MIM:613402 - MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY; MCSZ

MIM:613477 - DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 5; DEE5

MIM:613722 - DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 12; DEE12

MIM:614558 - DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 13; DEE13

MIM:614959 - DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 14; DEE14

MIM:615473 - DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 17; DEE17

MIM:615476 - DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 18; DEE18

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee