EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 10

General Information (adopted from Orphanet):

Synonyms, Signs: EJM7, INCLUDED
GEFS+, TYPE 5, SUSCEPTIBILITY TO, INCLUDED
GEFSP5, SUSCEPTIBILITY TO, INCLUDED
EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 7, INCLUDED
GEFS5, INCLUDED
EIG10 GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 5, SUSCEPTIBILITY TO, INCLUDED
GEFS+5, SUSCEPTIBILITY TO, INCLUDED
Number of Symptoms 8
OrphanetNr:
OMIM Id: 613060
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:0002123) Generalized myoclonic seizures 62 / 7739
2
 (HPO:0002197) Generalized seizures 30 / 7739
3
 (HPO:0002121) Absence seizures 62 / 7739
4
 (HPO:0002069) Generalized tonic-clonic seizures 96 / 7739
5
 (HPO:0007359) Focal seizures 27 / 7739
6
 (HPO:0002373) Febrile seizures 37 / 7739
7
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
8
 (HPO:0003812) Phenotypic variability 129 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Idiopathic generalized epilepsy (EIG) is a broad term that encompasses several common seizure phenotypes, classically including childhood absence epilepsy (CAE, ECA), juvenile absence epilepsy (JAE), and juvenile myoclonic epilepsy (JME, EJM) (Commission on Classification and Terminology of the ...
Clinical Description OMIM Dibbens et al. (2004) screened 72 unrelated patients with idiopathic generalized epilepsy, 65 with GEFS+, and 66 with febrile seizures for mutations in the GABRD gene. Two informative families were identified: 1 had a phenotype consistent with GEFS+ ...
Molecular genetics OMIM Dibbens et al. (2004) screened 72 unrelated patients with idiopathic generalized epilepsy, 65 with GEFS+, and 66 with febrile seizures for mutations in the GABRD gene. A heterozygous polymorphism in the GABRD gene (R220H; 137163.0002) was associated with ...