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
Term information
- NCIT:C84788 (MONDO:directSiblingOf)
- DOID:0050709 (MONDO:equivalentTo)
- DOID:0112202 (MONDO:equivalentTo)
- DOID:2481 (MONDO:equivalentObsolete)
- Orphanet:1934 (MONDO:equivalentTo)
- UMLS:C0037769 (MONDO:directSiblingOf)
- ICD9:345.6 (DOID:2481)
- OMIMPS:308350 (MONDO:pnr)
- SCTID:28055006 (MONDO:directSiblingOf)
- MedDRA:10071545 (Orphanet:1934/e)
- ICD9:345.10 (MONDO:relatedTo)
- GARD:9255 (Orphanet:1934)
- SCTID:230429005 (MONDO:equivalentTo)
- EFO:1000643 (MONDO:equivalentTo)
- NCIT:C122814 (MONDO:equivalentTo)
gard_rare, ordo_clinical_syndrome, rare, nord_rare, orphanet_rare, clingen
https://github.com/monarch-initiative/mondo/issues/19
https://github.com/monarch-initiative/mondo/issues/3680
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.
http://www.orpha.net/ORDO/Orphanet_1934
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://purl.obolibrary.org/obo/MONDO_0024321
http://purl.obolibrary.org/obo/MONDO_0015921