EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12

General Information (adopted from Orphanet):

Synonyms, Signs: EIEE12
Number of Symptoms 11
OrphanetNr:
OMIM Id: 613722
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0001257) Spasticity 251 / 7739
2
(HPO:0007359) Focal seizures 27 / 7739
3
(HPO:0002521) Hypsarrhythmia 43 / 7739
4
(HPO:0002197) Generalized seizures 30 / 7739
5
(HPO:0001347) Hyperreflexia 363 / 7739
6
(HPO:0008936) Muscular hypotonia of the trunk 77 / 7739
7
(OMIM) Regression of development 1 / 7739
8
(OMIM) Multifocal discharges seen on EEG 2 / 7739
9
(OMIM) Generalized slowing seen on EEG 1 / 7739
10
(OMIM) Delayed psychomotor development after onset of seizures 1 / 7739
11
(OMIM) Migrating discharges from one cortical region to another seen on EEG (in some patients) 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Kurian et al. (2010) reported a boy, born of consanguineous parents from Bangladesh, who presented with seizures at age 10 weeks. Seizures were characterized by eye rolling, lip smacking, drooling and perioral cyanosis followed by tonic stiffening and ...
Molecular genetics OMIM By genomewide scanning of a patient with early infantile epileptic encephalopathy, Kurian et al. (2010) identified a homozygous 0.5-Mb deletion on chromosome 20p12 encompassing the promoter element and exons 1, 2, and 3 of the PLCB1 gene (607120.0001), ...