Idiopathic generalized epilepsy

Common Name(s)

Idiopathic generalized epilepsy

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 ({4: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 ({19:Zara et al., 1995}; {7: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 CLCN2 gene ({600570}) on 3q36; EIG12 ({614847}), caused by mutation in the SLC2A1 gene ({138140}) on 1p34; and EIG13 ({611136}), caused by mutation in the GABRA1 gene ({137160}) on chromosome 5q34.
 

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Condition Specific Organizations

Following organizations serve the condition "Idiopathic generalized epilepsy" for support, advocacy or research.

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Idiopathic generalized epilepsy" returned 40 free, full-text research articles on human participants. First 3 results:

Motor evoked potential polyphasia: a novel endophenotype of idiopathic generalized epilepsy.
 

Author(s): Fahmida A Chowdhury, Adam D Pawley, Bryan Ceronie, Lina Nashef, Robert D C Elwes, Mark P Richardson

Journal: Neurology. 2015 Mar;84(13):1301-7.

 

We compared the motor evoked potential (MEP) phases using transcranial magnetic stimulation in patients with idiopathic generalized epilepsy (IGE), their relatives, and healthy controls, hypothesizing that patients and their unaffected relatives may share a subtle pathophysiologic abnormality.

Last Updated: 31 Mar 2015

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MRI segmentation analysis in temporal lobe and idiopathic generalized epilepsy.
 

Author(s): Hila Goldberg, Arie Weinstock, Niels Bergsland, Michael G Dwyer, Osman Farooq, Mona Sazgar, Guy Poloni, Cierra Treu, Bianca Weinstock-Guttman, Murali Ramanathan, Robert Zivadinov

Journal:

 

Temporal lobe epilepsy (TLE) and idiopathic generalized epilepsy (IGE) patients have each been associated with extensive brain atrophy findings, yet to date there are no reports of head to head comparison of both patient groups. Our aim was to assess and compare between tissue-specific ...

Last Updated: 26 Jun 2014

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Genetically encoded impairment of neuronal KCC2 cotransporter function in human idiopathic generalized epilepsy.
 

Author(s): Kristopher T Kahle, Nancy D Merner, Perrine Friedel, Liliya Silayeva, Bo Liang, Arjun Khanna, Yuze Shang, Pamela Lachance-Touchette, Cynthia Bourassa, Annie Levert, Patrick A Dion, Brian Walcott, Dan Spiegelman, Alexandre Dionne-Laporte, Alan Hodgkinson, Philip Awadalla, Hamid Nikbakht, Jacek Majewski, Patrick Cossette, Tarek Z Deeb, Stephen J Moss, Igor Medina, Guy A Rouleau

Journal: EMBO Rep.. 2014 Jul;15(7):766-74.

 

The KCC2 cotransporter establishes the low neuronal Cl(-) levels required for GABAA and glycine (Gly) receptor-mediated inhibition, and KCC2 deficiency in model organisms results in network hyperexcitability. However, no mutations in KCC2 have been documented in human disease. Here, ...

Last Updated: 2 Jul 2014

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Idiopathic generalized epilepsy" returned 1 free, full-text review articles on human participants. First 3 results:

Genetics of idiopathic generalized epilepsy: an overview.
 

Author(s): D K V Prasad, U Satyanarayana, Anjana Munshi

Journal: Neurol India. ;61(6):572-7.

 

Idiopathic generalized epilepsy (IGE) is a common type of epilepsy. Strong support for a genetic role in IGE comes from twin and family studies. Several subtypes of IGE have been reported but families often have members affected with different subtypes. Major advances have been made ...

Last Updated: 20 Jan 2014

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