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developmental and epileptic encephalopathy

Go to external page http://purl.obolibrary.org/obo/MONDO_0100062

A complex neurodevelopmental disorder characterized by a range of developmental delays and epileptic encephalopathy phenotypes. Seizure onset is variable and intellectual disability is variable in presence and severity. [ http://www.ncbi.nlm.nih.gov/pubmed/28276062 ]

Synonyms: epileptic encephalopathy, infantile early infantile epileptic encephalopathy with burst-suppression developmental and epileptic encephalopathy EIEE DEE infantile epileptic encephalopathy Ohtahara syndrome epileptic encephalopathy, early infantile early infantile epileptic encephalopathy with suppression-bursts early infantile epileptic encephalopathy infantile spasm

This is just here as a test because I lose it

Term information

database cross reference
  • GARD:9255 (MONDO:GARD)
  • NCIT:C122814 (MONDO:equivalentTo)
  • UMLS:C0393706 (MONDO:equivalentTo)
  • ICD9:345.10 (MONDO:relatedTo)
  • Orphanet:1934 (MONDO:equivalentTo)
  • DOID:2481 (MONDO:equivalentObsolete)
  • DOID:0050709 (MONDO:equivalentTo)
  • NANDO:1200593 (https://orcid.org/0000-0003-0011-764X)
  • SCTID:28055006 (MONDO:directSiblingOf)
  • NCIT:C84788 (MONDO:directSiblingOf)
  • ICD9:345.6 (DOID:2481)
  • OMIMPS:308350 (MONDO:pnr)
  • MEDGEN:97959 (MONDO:equivalentTo)
  • SCTID:230429005 (MONDO:equivalentTo)
  • DOID:0112202 (MONDO:equivalentTo)
  • MedDRA:10071545 (Orphanet:1934/e)
Subsets

ordo_disorder, gard_rare, otar, ordo_clinical_syndrome, rare, nord_rare, orphanet_rare, clingen

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/19

https://github.com/monarch-initiative/mondo/issues/3680

closeMatch

http://identifiers.org/meddra/10071545

comment

Individuals, both male and female, have been reported with variants in the GABRB3 gene. De novo and familial cases have been reported, with mostly missense and a few nonsense variants identified as causative. These patients have been described in the literature as having a range of phenotypes characterized as epileptic encephalopathy, Lennox-Gastaut syndrome, Dravet syndrome-like, and childhood absence epilepsy. Severity of intellectual disability is variable among reported probands, as is the age of onset of seizure phenotypes. In one case of epileptic encephalopathy, for example, the individual presented with severe intellectual disability while seizures onset at 12 years old. Additionally, individuals have been reported with the same de novo missense variants, and have been described with varying phenotypes.

creator

https://orcid.org/0000-0001-5208-3432

date

2018-10-10T22:04:15Z

exactMatch

http://www.orpha.net/ORDO/Orphanet_1934

http://identifiers.org/medgen/97959

http://identifiers.org/snomedct/230429005

http://purl.obolibrary.org/obo/NCIT_C122814

http://purl.obolibrary.org/obo/DOID_0050709

http://purl.obolibrary.org/obo/DOID_0112202

https://omim.org/phenotypicSeries/PS308350

http://linkedlifedata.com/resource/umls/id/C0393706

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0024321

http://purl.obolibrary.org/obo/MONDO_0015921

id

MONDO:0100062

seeAlso

https://www.epilepsydiagnosis.org/syndrome/ohtahara-overview.html