Background: Eyelid myoclonia with absences (EMA) has been associated with marked clinical heterogeneity. Early epilepsy onset has been recently linked to lower chances of achieving sustained remission and to a less favorable neuropsychiatric outcome. However, much work is still needed to better define this generalized epilepsy syndrome. Methods:In this multicenter retrospective cohort study, we included 267 EMA patients from 9 countries. The impact of age at epilepsy onset (AEO) on EMA clinical features was investigated, along with the distinctive clinical characteristics of patients showing sporadic myoclonia over body regions other than eyelids (body-MYO).Results: Kernel density estimation revealed a trimodal distribution of AEO and Fisher-Jenks optimization disclosed three EMA subgroups: early-onset (EO-EMA), intermediate-onset (IO-EMA) and late-onset subgroup (LO-EMA). EO-EMA was associated with the highest rate of intellectual disability, antiseizure medication refractoriness and psychiatric comorbidities and with the lowest rate of family history of epilepsy. LO-EMA was associated with the highest proportion of body-MYO and generalized tonic-clonic seizures (GTCS), whereas IO-EMA had the lowest observed rate of additional findings. A family history of EMA was significantly more frequent in IO-EMA and LO-EMA compared with EO-EMA. In the subset of patients with body-MYO (58/267), we observed a significantly higher rate of migraine and GTCS but no relevant differences in terms of other electroclinical features and seizure outcome. Conclusion:Based on AEO, we identified consistent EMA subtypes characterized by distinct electroclinical and familial features. Our observations highlight EMA as a model genetic generalized epilepsy syndrome, encompassing a spectrum of disease subtypes ranging from idiopathic generalized epilepsy to developmental/epileptic encephalopathy.

Epilepsy is a chronic non-infectious disease of the brain, characterized primarily by recurrent unprovoked seizures, defined as an episode of disturbance of motor, sensory, autonomic, or mental functions resulting from excessive neuronal discharge. Despite the advances in the treatment achieved with the use of antiepileptic drugs and other non-pharmacological therapies, about 30% of patients suffer from uncontrolled seizures. This review summarizes the currently available methods of gene and cell therapy for epilepsy and discusses the development of these approaches. Currently, gene therapy for epilepsy is predominantly adeno-associated virus (AAV)-mediated delivery of genes encoding neuro-modulatory peptides, neurotrophic factors, enzymes, and potassium channels. Cell therapy for epilepsy is represented by the transplantation of several types of cells such as mesenchymal stem cells (MSCs), bone marrow mononuclear cells, neural stem cells, and MSC-derived exosomes. Another approach is encapsulated cell biodelivery, which is the transplantation of genetically modified cells placed in capsules and secreting various therapeutic agents. The use of gene and cell therapy approaches can significantly improve the condition of patient with epilepsy. Therefore, preclinical, and clinical studies have been actively conducted in recent years to prove the benefits and safety of these strategies.

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The article presents modern points of view on the assessment of сognitive functions of the children and adolescents with epilepsy who take antiepileptic drugs (AEDs). The authors compare various AEDs which are used in modern clinical practice in Russia and abroad, their impact on cognitive functions, discuss the psychometric tools which are used in Russia to assess the dynamics of cognitive functions in this group of patients.