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Summary Literature (2)
DOID:0050709 - Ohtahara syndrome


Disease Ontology Definition:A neonatoal 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

Referenced OMIM:
OMIM:300088 - EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 9; EIEE9
OMIM:300607 - EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 8; EIEE8
OMIM:300672 - EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2; EIEE2
OMIM:308350 - EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1; EIEE1
OMIM:609304 - EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 3; EIEE3
OMIM:612164 - EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4; EIEE4
OMIM:613402 - MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY; MCSZ
OMIM:613477 - EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5; EIEE5
OMIM:613722 - EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12; EIEE12
OMIM:614558 - EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 13; EIEE13
OMIM:614959 - EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 14; EIEE14
OMIM:615473 - EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 17; EIEE17
OMIM:615476 - EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 18; EIEE18

Human Disease Resources: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Xenbase Genes : arx, gnao1, stxbp1, cdkl5, arhgef9, sptan1, scn8a, slc25a22, pcdh19, pnkp, kcnt1, szt2, c1orf84, plcb1

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Parent(s): neonatal period electroclinical syndrome (is_a)


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