Epilepsy, idiopathic generalized

Preferred Label : Epilepsy, idiopathic generalized;

Symbol : EIG;

CISMeF acronym : EIG; EIG1; IGE;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : Idiopathic generalized epilepsy; IGE;

Included titles and symbols : Epilepsy, idiopathic generalized, susceptibility to, 1; Epilepsy, idiopathic generalized, susceptibility to, locus on chromosome 8; EIG1;

Description : 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 with grand mal seizures on awakening (Commission on Classification and Terminology of the International League Against Epilepsy, 1989). These recurrent seizures occur in the absence of detectable brain lesions and/or metabolic abnormalities. Seizures are initially generalized with a bilateral, synchronous, generalized, symmetrical EEG discharge (Zara et al., 1995; Lu and Wang, 2009). See also childhood absence epilepsy (ECA1; 600131), which has also been mapped to 8q24. Of note, benign neonatal epilepsy 2 (EBN2; 121201) is caused by mutation in the KCNQ3 gene (602232) on 8q24. - Genetic Heterogeneity of Idiopathic Generalized Epilepsy EIG1 has been mapped to chromosome 8q24. Other loci or genes associated with EIG include EIG2 (606972) on 14q23; EIG3 (608762) on 9q32; EIG4 (609750) on 10q25; EIG5 (611934) on 10p11; EIG6 (611942), caused by mutation in the CACNA1H gene (607904) on 16p; EIG7 (604827) on 15q14; EIG8 (612899), caused by mutation in the CASR gene (601199) on 3q13.3-q21; EIG9 (607682), caused by mutation in the CACNB4 gene (601949) on 2q22-q23; EIG10 (613060), caused by mutation in the GABRD gene (137163) on 1p36.3; EIG11 (607628), caused by variation in the;

Inheritance : Autosomal dominant;

Molecular basis : Susceptibility conferred by 9-SNP haplotype in malic enzyme 2 (ME2, 154270.0001);

Prefixed ID : %600669;

Details

Origin ID

600669;

UMLS CUI

C0270850;

Currated CISMeF NLP mapping
- Idiopathic generalised epilepsy [MedDRA Preferred Term]
- Idiopathic generalized epilepsy [MedDRA LLT]
- Idiopathic generalized epilepsy (disorder) [SNOMED CT concept]
- epilepsy, idiopathic generalized [MeSH concept]
- epilepsy, idiopathic generalized [MeSH Supplementary Concept]
- idiopathic generalized epilepsy [DO Concept]
- idiopathic generalized epilepsy, nos [SNOMED Notion]
DO Cross reference
- idiopathic generalized epilepsy [DO Concept]
False automatic mappings
- IgE [MedDRA LLT]
- IgE [LOINC component]
- IgE [NCIt concept]
- Immunoglobulin E Measurement [NCIt concept]
- immunoglobulin E [MeSH concept]
- immunoglobulin e [MeSH Descriptor]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Bilateral tonic-clonic seizure [HPO term]
- EEG with spike-wave complexes (>3.5 Hz) [HPO term]
- Epilepsy [HPO term]
- Generalized myoclonic seizure [HPO term]
- Generalized non-motor (absence) seizure [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Generalized idiopathic epilepsy and epileptic syndromes [ICD-10 Sub-category]
- Idiopathic generalised epilepsy [MedDRA Preferred Term]
- Idiopathic generalized epilepsy [MedDRA LLT]
- Idiopathic generalized epilepsy (disorder) [SNOMED CT concept]
- epilepsy, idiopathic generalized [MeSH Supplementary Concept]
- epilepsy, idiopathic generalized [MeSH concept]
- idiopathic generalized epilepsy, nos [SNOMED Notion]

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