EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 9

General Information (adopted from Orphanet):

Synonyms, Signs: EJM6, INCLUDED
EIG9 EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 6, INCLUDED
Number of Symptoms 10
OrphanetNr:
OMIM Id: 607682
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0007000) Morning myoclonic jerks 2 / 7739
2
(HPO:0002392) EEG with polyspike wave complexes 3 / 7739
3
(HPO:0007193) Generalized tonic-clonic seizures on awakening 3 / 7739
4
(HPO:0002121) Absence seizures 62 / 7739
5
(OMIM) Normal intelligence 81 / 7739
6
(HPO:0001425) Heterogeneous 132 / 7739
7
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
8
(HPO:0003621) Juvenile onset 105 / 7739
9
(OMIM) Photosensitivity in one-third of patients 2 / 7739
10
(OMIM) 3-6 Hz polyspike EEG 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) For a general phenotypic description and a discussion of genetic heterogeneity of idiopathic generalized epilepsy, see 600669. Juvenile myoclonic epilepsy is a subtype of idiopathic generalized epilepsy; see 254770 for a general phenotypic description and a discussion of ...
Clinical Description OMIM Escayg et al. (2000) reported a woman with a history of sporadic typical absence seizures (brief spells of loss of consciousness) and repetitive bilateral myoclonic jerks in the shoulders and arms after awakening, since age 9 years. She ...
Molecular genetics OMIM In a woman with juvenile myoclonic epilepsy, Escayg et al. (2000) identified a heterozygous mutation in the CACNB4 gene (R482X; 601949.0001). A German father and son with EIG had a heterozygous mutation in the CACNB4 gene (C104F; 601949.0002). ...