EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 11

General Information (adopted from Orphanet):

Synonyms, Signs: EJM8, INCLUDED
EJA2, INCLUDED
EIG11 EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 8, INCLUDED
EPILEPSY, JUVENILE ABSENCE, SUSCEPTIBILITY TO, 2, INCLUDED
Number of Symptoms 7
OrphanetNr:
OMIM Id: 607628
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 Occasional [HPO:probinson] 62 / 7739
2
(HPO:0002121) Absence seizures Occasional [HPO:probinson] 62 / 7739
3
(HPO:0007193) Generalized tonic-clonic seizures on awakening 3 / 7739
4
(OMIM) Absence seizures may occur 1 / 7739
5
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
6
(OMIM) Myoclonic seizures may occur 1 / 7739
7
(OMIM) GTCS during 'leisure' time (evening) 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Both juvenile myoclonic epilepsy and juvenile absence epilepsy are subtypes of idiopathic generalized epilepsy (EIG).

For a general phenotypic description and a discussion of genetic heterogeneity of these disorders, see EIG (600669), EJM (254770), and EJA ...

Molecular genetics OMIM In 2 sibs with juvenile absence epilepsy found by Sander et al. (2000) to be linked to chromosome 3q26,Haug et al. (2003) identified a heterozygous mutation in the CLCN2 gene (G715E; 600570.0003). Another sib with generalized spike-wave discharges ...