Impact of genetic testing in developmental and epileptic encephalopathy- parents' perspective.

Background: Developmental and epileptic encephalopathies (DEEs) are a group of severe and heterogeneous epilepsies. Most of the affected patients have treatment refractory seizures, intellectual disability (ID), and multiple comorbidities. The condition has a negative impact on quality of life, both for the patients and their families.

The organization of functional neurocognitive networks in focal epilepsy correlates with domain-specific cognitive performance.

Understanding and diagnosing cognitive impairment in epilepsy remains a prominent challenge. New etiological models suggest that cognitive difficulties might not be directly linked to seizure activity, but are rather a manifestation of a broader brain pathology. Consequently, treating seizures is not sufficient to alleviate cognitive symptoms, highlighting the need for novel diagnostic tools.

Source-level EEG and graph theory reveal widespread functional network alterations in focal epilepsy.

Objective: The hypersynchronous neuronal activity associated with epilepsy causes widespread functional network disruptions extending beyond the epileptogenic zone. This altered network topology is considered a mediator for non-seizure symptoms, such as cognitive impairment. The aim of this study was to investigate functional network alterations in focal epilepsy patients with good seizure control and high quality of life.

[Juvenile myoclonic epilepsy].

Background: Juvenile myoclonic epilepsy (JME) is a generalised epilepsy with seizure onset in youth. The aim of this review is to present updated knowledge about the etiology, diagnosis and treatment of JME.

Material And Method: The review is based on a judicious selection of original English language articles, meta-analyses, and reviews found in PubMed, and the authors' own experience with the patient group.