Click here to close Hello! We notice that you are using Internet Explorer, which is not supported by Xenbase and may cause the site to display incorrectly. We suggest using a current version of Chrome, FireFox, or Safari.
Summary Literature (4)
DOID:0050709 - early infantile epileptic encephalopathy


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

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

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

OMIM:
OMIM:300088 - DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 9; DEE9
OMIM:300607 - DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 8; DEE8
OMIM:300672 - DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 2; DEE2
OMIM:308350 - DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 1; DEE1
OMIM:609304 - DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 3; DEE3
OMIM:612164 - DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 4; DEE4
OMIM:613402 - MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY; MCSZ
OMIM:613477 - DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 5; DEE5
OMIM:613722 - DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 12; DEE12
OMIM:614558 - DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 13; DEE13
OMIM:614959 - DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 14; DEE14
OMIM:615473 - DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 17; DEE17
OMIM:615476 - DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 18; DEE18

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): neonatal period electroclinical syndrome (is_a)