EPILEPSY, IDIOPATHIC GENERALIZED

General Information (adopted from Orphanet):

Synonyms, Signs: EIG1, INCLUDED
IGE EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 1, INCLUDED
IDIOPATHIC GENERALIZED EPILEPSY
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, LOCUS ON CHROMOSOME 8, INCLUDED
EIG
Number of Symptoms 8
OrphanetNr:
OMIM Id: 600669
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:0002069) Generalized tonic-clonic seizures 96 / 7739
2
(HPO:0002121) Absence seizures 62 / 7739
3
(HPO:0002197) Generalized seizures 30 / 7739
4
(HPO:0002123) Generalized myoclonic seizures 62 / 7739
5
(HPO:0010849) EEG with spike-wave complexes (>3.5 Hz) 6 / 7739
6
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
7
(OMIM) EEG shows generalized, bilateral, synchronous, symmetrical discharge 1 / 7739
8
(OMIM) EEG shows spike and multispike waves, 3-4 Hz 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Idiopathic generalized epilepsy is a broad term that encompasses several common seizure phenotypes, classically including childhood absence epilepsy (CAE, ECA; see 600131), juvenile absence epilepsy (JAE, EJA; see 607631), juvenile myoclonic epilepsy (JME, EJM; see 254770), and epilepsy ...
Molecular genetics OMIM By exome sequencing of 237 ion channel subunit genes in 152 individuals with idiopathic epilepsy and 139 healthy controls, Klassen et al. (2011) drew 3 major conclusions: the architecture of ion channel variation in both patients and controls ...