Epilepsy, Idiopathic Generalized; Eig


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 ), which has also been mapped to 8q24. Of note, benign neonatal epilepsy 2 (EBN2 ) is caused by mutation in the KCNQ3 gene (OMIM ) on 8q24. Genetic Heterogeneity of Idiopathic Generalized EpilepsyEIG1 has been mapped to chromosome 8q24. Other loci or genes associated with EIG include EIG2 (OMIM ) on 14q23; EIG3 (OMIM ) on 9q32; EIG4 (OMIM ) on 10q25; EIG5 (OMIM ) on 10p11; EIG6 (OMIM ), caused by mutation in the CACNA1H gene (OMIM ) on 16p; EIG7 (OMIM ) on 15q14; EIG8 (OMIM ), caused by mutation in the CASR gene (OMIM ) on 3q13.3-q21; EIG9 (OMIM ), caused by mutation in the CACNB4 gene (OMIM ) on 2q22-q23; EIG10 (OMIM ), caused by mutation in the GABRD gene (OMIM ) on 1p36.3; EIG11 (OMIM ), caused by variation in the CLCN2 gene (OMIM ) on 3q36; EIG12 (OMIM ), caused by mutation in the SLC2A1 gene (OMIM ) on 1p34; EIG13 (OMIM ), caused by mutation in the GABRA1 gene (OMIM ) on 5q34; and EIG14 (OMIM ), caused by mutation in the SLC12A5 gene (OMIM ) on 20q12.

Clinical Features

Phenotypes and symptoms related to Epilepsy, Idiopathic Generalized; Eig

  • Seizures
  • Generalized tonic-clonic seizures
  • Generalized myoclonic seizures
  • Generalized-onset seizure
  • Absence seizures
  • EEG with spike-wave complexes (>3.5 Hz)

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

Epilepsy, Idiopathic Generalized; Eig Is also known as ige, idiopathic generalized epilepsy.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Sources and references

You can check the following sources for additional information.

OMIM MESH Genetic Syndrome Finder

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like HEIMLER SYNDROME 2; HMLR2 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM TYPES I AND III