Summary Literature (0)

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,

Echinobase Genes : sptan1, stxbp2, gnao1, pnkp


OMIM:

MIM:300088 - epileptic encephalopathy, early infantile, 9; eiee9

MIM:300607 - epileptic encephalopathy, early infantile, 8; eiee8

MIM:300672 - epileptic encephalopathy, early infantile, 2; eiee2

MIM:308350 - epileptic encephalopathy, early infantile, 1; eiee1

MIM:609304 - epileptic encephalopathy, early infantile, 3; eiee3

MIM:612164 - epileptic encephalopathy, early infantile, 4; eiee4

MIM:613402 - microcephaly, seizures, and developmental delay; mcsz

MIM:613477 - epileptic encephalopathy, early infantile, 5; eiee5

MIM:613722 - epileptic encephalopathy, early infantile, 12; eiee12

MIM:614558 - epileptic encephalopathy, early infantile, 13; eiee13

MIM:614959 - epileptic encephalopathy, early infantile, 14; eiee14

MIM:615473 - epileptic encephalopathy, early infantile, 17; eiee17

MIM:615476 - epileptic encephalopathy, early infantile, 18; eiee18

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

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