EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12

General Information (adopted from Orphanet):

Synonyms, Signs: EIG12
Number of Symptoms 6
OrphanetNr:
OMIM Id: 614847
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:0011147) Typical absence seizures 33 / 7739
2
(HPO:0002121) Absence seizures 62 / 7739
3
(HPO:0002069) Generalized tonic-clonic seizures 96 / 7739
4
(HPO:0003829) Incomplete penetrance 85 / 7739
5
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
6
(OMIM) Seizures, juvenile myoclonic 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Suls et al. (2009) identified heterozygous mutations in the SLC2A1 gene in 4 (12%) of 34 patients with early-onset absence epilepsy before age 4 years. CSF glucose levels were not available from any of the patients. One of ...
Molecular genetics OMIM Suls et al. (2009) reported a 28-year-old woman with early-onset absence epilepsy at age 3 years and generalized tonic-clonic seizures at age 7. She had normal intelligence and remission of seizures with medication at age 7. CSF glucose ...