Epilepsy, Idiopathic Generalized

Alternative Names

  • EIG
  • Idiopathic Generalized Epilepsy
  • IGE
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WHO-ICD-10 version:2010

Diseases of the nervous system

Episodic and paroxysmal disorders

OMIM Number

600669

Mode of Inheritance

Autosomal dominant

Gene Map Locus

2q22-q23,6q24-q25,8q24,9q32-q33,14q23,18q21

Description

Epilepsy is the most common chronic neurological disorder worldwide; affecting at least 3% of the population. Epilepsy is characterized by unprovoked, recurring seizures, caused due to abnormal electrical activity in the brain. Idiopathic generalized epilepsy is a condition, wherein the exact cause of the seizures is not identifiable. In other words, the seizures are not associated with any structural brain lesions, or abnormal neurological symptoms. Instead, the MRI implies a normal neuropsychological status. For the most part, IGE is presumed to be due to a genetic cause, even though in some cases, a family history may not be present. IGE generally starts early in childhood. However, unlike other epilepsies, the seizures remit spontaneously by teenage years. The response to medication is also improved for IGE. The prognosis for these patients, therefore, is a much better one when compared to other forms of epilepsy. Several different subtypes are present within the IGEs, with differing electroclinical features.

Since MRI scans are of no use in diagnosing IGEs, electroencephalogram is the chief mode of diagnosis of the disease. The EEG may show epileptic discharge affecting the entire brain. The actual subtype of the IGE in the affected individual may have to be deduced from the clinical features, age of onset, and the type of seizures. Medication is in the form of anticonvulsant drugs. Surgery is considered as an option, if the medication does not work. Surgery involves removing the part of the brain that triggers the seizures. This usually means removal of the anterior temporal lobe, but may also involve hemispherectomy or corpus callosotomy.

Molecular Genetics

Several genes have been implicated in the development of IGE. A number of these are genes that code for protein subunits of gated channels, or receptors for neurotransmitters. These include KCNQ2, KCNQ3, SCN1B, CHRNA7, CHRNA4, and others. Mutations in these genes lead to major communication disturbances in the brain, resulting in epilepsy. In addition, 8q24, 10q, 19q13, 15q14 are some other loci which have been found to be linked to some other subtypes of the disease. However, the genetic basis of all the loci and their function is not clearly understood.

Epidemiology in the Arab World

View Map
Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
600513.G.1KuwaitUnknown SeizureNM_000744.6:c.639T>CHomozygousHaider et al. 2005 1 out of 123 patient...
600513.G.2KuwaitUnknown SeizureNM_000744.6:c.639T>CHeterozygousHaider et al. 2005 17 out of 123 patien...

Other Reports

Egypt

In a study on 38 cases of IE belonging to 32 families, Shawky et al. (1990a) suggested that the dermatoglyphic pattern could be used to identify individuals susceptible to developing epilepsy. (Shawky RM, El-Sawy M, Hashad H. Dermatoglyphic study in cases of idiopathic epilepsy. Egyptian J Med Sci. 1990a; 58(2):207-14.)

Using the same study group, Shawky et al. (1990b) attempted to study the mode of inheritance of idiopathic epilepsy. Their analyses pointed towards a a multifactorial mode of inheritance, involving interaction of both genetic and environmental factors, whereas the EEG pattern fit an autosomal dominant mode of inheritance. (Shawky RM, El-Sawy M, Hashad H. Mode of inheritance of idiopathic epilepsy.in an Egyptian population. Egyptian J Med Sci. 1990b; 58(3):67-79.)

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