Genetic Epilepsies

Genetic epilepsies are among the most common forms of epilepsy. They are caused by pathogenic variants in specific genes, which can lead to abnormal electrical activity in the brain, triggering seizures.

It is important to note that the term “genetic” does not always mean “inherited.” Families with a history of epilepsy may have a genetic predisposition to the condition. However, gene mutations can also occur spontaneously (de novo), without a prior family history.

More than 800 genes have been identified as being involved in genetic epilepsies, with some of the most common including: SCN1A, KCNQ2, KCNT1, and PRRT2.

Clinical manifestations vary depending on the affected gene. Understanding the underlying cause and identifying the responsible gene can provide critical information for prognosis and treatment options.

It is important to be aware of the signs that may indicate the presence of genetic epilepsy:

  • Seizures: Involuntary body movements or loss of consciousness.
  • Absence seizures: Brief episodes of lost awareness or unconsciousness.
  • Myoclonus: Sudden, short muscle spasms.
  • Atonic episodes: Sudden loss of muscle tone, leading to falls.
  • Epileptic spasms: Rapid, repetitive muscle contractions, often in infancy.
  • Cognitive or behavioral issues: Learning difficulties, hyperactivity, or aggressive behavior.

Treatment and management: accurate genetic identification is crucial for personalizing treatment and improving outcomes. Here are some measures for managing genetic epilepsies:

  • Genetic testing: Epilepsy gene panel, Whole Exome Sequencing (WES) și Whole Genome Sequencing (WGS) for the identification of the gene mutations. These tests require only a small blood sample and can help confirm a diagnosis, guide treatment, and inform family planning.
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  • Medication: targeted antiepileptic drugs to control or reduce seizure frequency.
  • Early intervention: addressing cognitive and behavioral issues to enhance quality of life.
  • Regular monitoring: periodic evaluations to adjust treatment as needed.
  • Multidisciplinary care: teams including neurologists, geneticists, psychologists, and therapists to provide comprehensive management.
  • Psychological support: Counseling for patients and families to cope with emotional and social challenges.

Our center runs the National Ketogenic Diet Program for Epilepsy.

  1. Fisher RS, Cross JH, French JA, et al. Operational classification of seizure types by the International League Against Epilepsy. Epilepsia 2017;58(4):522–530. doi:10.1111/epi.13670.
  2. Pack AM. Epilepsy Overview and Revised Classification of Seizures and Epilepsies. Continuum (Minneap Minn). 2019 Apr;25(2):306-321. doi: 10.1212/CON.0000000000000707. PMID: 30921011.
  3. Symonds JD, Zuberi SM, Stewart K, et al. Incidence and phenotypes of childhood-onset genetic epilepsies: a prospective population-based national cohort. Brain. 2019 Aug 1;142(8):2303-2318. doi: 10.1093/brain/awz195. PMID: 31302675; PMCID: PMC6658850.

Wang J, Lin ZJ, Liu L, et al. Epilepsy-associated genes. Seizure. 2017 Jan;44:11-20. doi: 10.1016/j.seizure.2016.11.030. Epub 2016 Dec 6. PMID: 28007376

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