Absence epilepsy: Continuum of clinical presentation and epigenetics?

作者：Guilhoto Laura M^*

来源：Seizure-European Journal of Epilepsy, 2017, 44: 53-57.

DOI：10.1016/j.seizure.2016.11.031

• Absence seizure
• Generalized epilepsy
• Treatment
• Prognosis
• Classification
• Nosology

Purpose: Although absence seizures do predominate in childhood they may occur at all ages and clinical presentation varies widely. Albeit considered a benign seizure type, chronic evolution with therapeutic refractoriness is possible in some patients with absences. The aim of this paper is to summarize the main syndromic presentation of absence seizures and its outcome regarding treatment and prognosis.
Method: We performed a review of literature with emphasis in historic and classical manuscripts about absence epilepsy.
Results: Absence was described in the beginning of last century as a seizure type with good evolution, but it is still difficult to preview a strict prognosis for an individual patient. Some positive early predictors were reported such as response to initial treatment and seizure onset in childhood. Genetic aspects are not yet well understood although some families have been reported with rare mutations in ion channel coding genes.
Conclusion: Absence seizures are present in different epilepsy syndromes and nosological classification is not always possible. Outcome depends on clinical variables such as age of onset, presence of other seizure types and initial response to treatment.

• 出版日期2017-1