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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 ]

Term info

Label

developmental and epileptic encephalopathy

Synonyms
  • EIEE
  • Ohtahara syndrome
  • developmental and epileptic encephalopathy
  • early infantile epileptic encephalopathy
  • early infantile epileptic encephalopathy with burst-suppression
  • early infantile epileptic encephalopathy with suppression-bursts
  • epileptic encephalopathy, early infantile
  • epileptic encephalopathy, infantile
  • infantile epileptic encephalopathy
  • infantile spasm
database cross reference
Subsets

ordo_clinical_syndrome, clingen

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://identifiers.org/snomedct/230429005, http://purl.obolibrary.org/obo/NCIT_C122814, http://purl.obolibrary.org/obo/DOID_0050709, http://purl.obolibrary.org/obo/Orphanet_1934, https://omim.org/phenotypicSeries/PS308350

excluded subClassOf

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

id

MONDO:0100062

narrowMatch

https://icd.codes/icd10cm/G40.3

see also

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