EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET

General Information (adopted from Orphanet):

Synonyms, Signs: EEOC
Number of Symptoms 15
OrphanetNr:
OMIM Id: 615369
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0001249) Intellectual disability 1089 / 7739
2
(HPO:0200134) Epileptic encephalopathy 42 / 7739
3
(HPO:0001263) Global developmental delay 853 / 7739
4
(HPO:0010819) Atonic seizures 18 / 7739
5
(HPO:0002123) Generalized myoclonic seizures 62 / 7739
6
(HPO:0002373) Febrile seizures 37 / 7739
7
(HPO:0002069) Generalized tonic-clonic seizures 96 / 7739
8
(HPO:0002376) Developmental regression 74 / 7739
9
(HPO:0000729) Autistic behavior rare [HPO:skoehler] 27 / 7739
10
(HPO:0002121) Absence seizures 62 / 7739
11
(HPO:0002133) Status epilepticus 59 / 7739
12
(HPO:0002353) EEG abnormality 188 / 7739
13
(HPO:0001250) Seizures 1245 / 7739
14
(HPO:0000992) Cutaneous photosensitivity rare [HPO:skoehler] 75 / 7739
15
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Childhood-onset epileptic encephalopathy (EEOC) is a severe form of epilepsy characterized by onset of multiple seizure types in the first few years of life and associated with poor prognosis. Affected individuals have cognitive regression and intellectual disability (summary ...
Clinical Description OMIM Rauch et al. (2012) reported a German girl (MS134) with childhood-onset epileptic encephalopathy. She had delayed psychomotor development with an IQ of 50-69 and onset of absence seizures at age 5 years.

Carvill et al. (2013) ...

Molecular genetics OMIM In a German girl (MS134) with childhood-onset epileptic encephalopathy, Rauch et al. (2012) identified a de novo heterozygous truncating mutation in the CHD2 gene (602119.0001). The mutation, which was found by exome sequencing and confirmed by Sanger sequencing, ...