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febrile seizures, familial, 8

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The information provided on this page is for informational purposes only. The National Organization for Rare Disorders (NORD) does not endorse the information presented. The content has been gathered in partnership with the MONDO Disease Ontology. Please consult with a healthcare professional for medical advice and treatment.


Disease Overview

A childhood absence epilepsy that is characterized by mutations in the GABRG2 gene, which cause a spectrum of seizure disorders, ranging from early-onset isolated febrile seizures (FS) to childhood absence epilepsy (CAE) to generalized epilepsy with febrile seizures plus, type 3 (GEFS+3), which tends to represent a more severe phenotype.


Synonyms

  • ECA2
  • GABRG2 childhood absence epilepsy
  • GABRG2 generalised epilepsy with febrile seizures plus
  • GABRG2 generalized epilepsy with febrile seizures plus
  • GEFSP3
  • Gefs+, type 3
  • childhood absence epilepsy caused by mutation in GABRG2
  • epilepsy, childhood absence, susceptibility to, 2
  • epilepsy, childhood absence, susceptibility to, type 2
  • generalised epilepsy with febrile seizures plus caused by mutation in GABRG2
  • generalised epilepsy with febrile seizures plus, type 3
  • generalized epilepsy with febrile seizures plus caused by mutation in GABRG2
  • generalized epilepsy with febrile seizures plus, type 3
  • susceptibility to childhood absence epilepsy 2

GARD Disease Summary

The Genetic and Rare Diseases Information Center (GARD) has information and resources for patients, caregivers, and families that may be helpful before and after diagnosis of this condition. GARD is a program of the National Center for Advancing Translational Sciences (NCATS), part of the National Institutes of Health (NIH).

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OMIM

Online Mendelian Inheritance In Man (OMIM) has a summary of published research about this condition and includes references from the medical literature. The summary contains medical and scientific terms, so we encourage you to share and discuss this information with your doctor. OMIM is authored and edited at the McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine.

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