Genetic/idiopathic generalized epilepsies: Not so good as that!

Rev Neurol (Paris). 2020 Jun;176(6):427-438. doi: 10.1016/j.neurol.2020.03.018. Epub 2020 May 15.

Abstract

Genetic or idiopathic generalized epilepsies (IGEs) account for 15-20% of all epilepsies. These syndromes have always been considered as good prognosis forms of epilepsy over time; however, for some patients, there is a need to maintain antiseizure drugs (ASD) for a long-time. Drug resistance is not uncommon (7-15%). Lifestyle remains essential and is an integral part of the treatment. Comorbidities such as obstructive sleep apnea syndrome must be considered and treated. A highly underestimated condition is the risk of sudden unexpected death in epilepsy (SUDEP). Very few data are available about the prevalence of SUDEP in IGE, but patients with generalized tonic-clonic seizures (GTCS) are exposed to this risk. IGEs are also characterized by a specific pharmalogical sensisitivity but may be aggravated by ASDs. Historically, the treatment of IGEs has relied mostly on valproate but this drug should be avoided in women of childbearing potential. Women with IGE not treated with valproate are more likely to have unsatisfactory seizure control. Female gender appears now as a new risk factor for drug-resistance. Finally, aside from the typical forms, there are epilepsies that fulfill most of the criteria of IGE, but that have an unusual history with GTCS, absences, falls, and drug resistance. Patients do not have psychomotor regression, brain magnetic resonance imaging is normal. EEG shows generalized fast rhythms during NREM sleep. These patients with refractory generalized epilepsy with sleep-related fast activities do not belong to a well-established syndromic category. These cases are considered "intermediary" between IGE and epileptic encephalopathies.

Keywords: Comorbidities; Idiopathic/genetic generalized epilepsy; Long-term prognosis; SUDEP; Women of childbearing potential.

Publication types

  • Review

MeSH terms

  • Abnormalities, Drug-Induced / diagnosis
  • Abnormalities, Drug-Induced / epidemiology
  • Abnormalities, Drug-Induced / etiology
  • Abnormalities, Drug-Induced / prevention & control
  • Adult
  • Comorbidity
  • Contraindications, Drug
  • Death, Sudden / epidemiology
  • Death, Sudden / etiology
  • Death, Sudden / prevention & control
  • Epilepsy, Generalized* / diagnosis
  • Epilepsy, Generalized* / epidemiology
  • Epilepsy, Generalized* / genetics
  • Epilepsy, Generalized* / therapy
  • Female
  • Humans
  • Pregnancy
  • Pregnancy Complications / diagnosis
  • Pregnancy Complications / epidemiology
  • Pregnancy Complications / etiology
  • Pregnancy Complications / therapy
  • Prognosis
  • Valproic Acid / therapeutic use
  • Young Adult

Substances

  • Valproic Acid

Supplementary concepts

  • Epilepsy, Idiopathic Generalized