EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7

General Information (adopted from Orphanet):

Synonyms, Signs: EIEE7
Number of Symptoms 21
OrphanetNr:
OMIM Id: 613720
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

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:0001250) Seizures 1245 / 7739
4
(HPO:0001263) Global developmental delay 853 / 7739
5
(HPO:0001285) Spastic tetraparesis 29 / 7739
6
(HPO:0001332) Dystonia 197 / 7739
7
(HPO:0010547) Muscle flaccidity 466 / 7739
8
(HPO:0001324) Muscle weakness 859 / 7739
9
(HPO:0001252) Muscular hypotonia 990 / 7739
10
(HPO:0008947) Infantile muscular hypotonia 482 / 7739
11
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
12
(MedDRA:10003830) Automatism 4 / 7739
13
(OMIM) Seizures, tonic 3 / 7739
14
(OMIM) Clonic seizures 3 / 7739
15
(OMIM) Generalized stiffening 1 / 7739
16
(OMIM) EEG shows burst suppression pattern 3 / 7739
17
(HPO:0002079) Hypoplasia of the corpus callosum rare [HPO:skoehler] 161 / 7739
18
(OMIM) Hyperintensities in the basal ganglia and/or thalamus Thin corpus callosum (in some patients) 1 / 7739
19
(OMIM) Reduced posterior white matter volume (in some patients) 1 / 7739
20
(OMIM) EEG shows multifocal epileptic activity 1 / 7739
21
(HPO:0003593) Infantile onset 249 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) EIEE7 is an autosomal dominant seizure disorder characterized by infantile onset of refractory seizures with resultant delayed neurologic development and persistent neurologic abnormalities (Borgatti et al., 2004). EEG initially shows a burst suppression pattern and later evolves to ...
Clinical Description OMIM Dedek et al. (2003) reported a mother and son with atypical severe early-onset epilepsy. Both patients had a severe course characterized by drug-resistant seizures necessitating ACTH treatment. The son had onset of seizures on day 3 of life. ...
Molecular genetics OMIM In a mother and son with atypical severe early-onset epilepsy, Dedek et al. (2003) identified a heterozygous KCNQ2 mutation (S247W; 602235.0008). The son developed early infantile epileptic encephalopathy and delayed psychomotor development with hypotonia and dystonia. The mother ...