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Epilepsy is a chronic neurological disease marked by recurrent, unpredictable seizures. These seizures are caused by abnormal electrical discharges in the brain, leading to behavior, sensation, or consciousness alterations. They can also cause transient impairment of awareness, interfering with daily activities.
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Women With Genetic Epilepsies.

Paula T Marques1,2,3, Nagham Kaka2, Quratulain Zulfiqar Ali3,4

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Epilepsy syndromes, often X-linked, predominantly affect females. This review synthesizes genetic causes and treatments for female-predominant epilepsies like Rett syndrome and juvenile myoclonic epilepsy.

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Area of Science:

  • Neurogenetics
  • Epileptology
  • Medical Genetics

Background:

  • Epilepsy exhibits sex-based prevalence differences, with some syndromes more common in females.
  • X-linked genetic variants, often lethal in males, contribute to higher female prevalence in certain epilepsy types.
  • Idiopathic generalized epilepsies, like juvenile myoclonic epilepsy, can also show female predominance due to complex genetic factors.

Purpose of the Study:

  • To conduct a narrative review of epilepsy syndromes with a higher prevalence in female individuals.
  • To synthesize findings on clinical characteristics, genetic mechanisms, and treatment considerations.
  • To enhance understanding for improved patient care and genetic counseling.

Main Methods:

  • A narrative review of literature was performed using PubMed and Scopus.
  • Search terms included "epilepsy in women," "genetic epilepsy in female individuals," and related phrases.
  • Findings were synthesized and described based on clinical, genetic, and therapeutic aspects.

Main Results:

  • Reviewed epilepsy syndromes include Rett syndrome, CDKL5 deficiency disorder, PCDH19-related epilepsy, subcortical band heterotopia, periventricular heterotopia, Aicardi syndrome, and juvenile myoclonic epilepsy.
  • These conditions often involve specific genetic variants or complex inheritance patterns.
  • Understanding the genetic basis is crucial for tailored treatment and family planning.

Conclusions:

  • Recognizing epilepsy syndromes predominantly affecting females is essential for early, tailored treatment.
  • Knowledge of underlying genetic etiology aids in providing accurate genetic counseling for affected families.
  • Further research into sex-specific epilepsy genetics can optimize management strategies.