Effectiveness of add-on acetazolamide in children with drug-resistant CHD2-related epilepsy and in a zebrafish CHD2 model.

CHD2-related epilepsy is characterized by early-onset photosensitive myoclonic epilepsy with developmental delay and a high rate of pharmacoresistance. We sought to evaluate the efficacy of acetazolamide (ACZ) in CHD2-related epilepsy, due to ACZ's unexpected efficacy in our first patient harboring a pathogenic CHD2 variant. We collected patients from different Eastern European countries with drug-resistant CHD2-related epilepsy who were then treated with ACZ.

Epileptic spasms with terror during sleep in CDKL5 encephalopathy.

Study Objectives: To describe early diagnostic clues in Cyclin-Dependent Kinase-Like 5 (CDKL5) refractory encephalopathy, to improve treatment strategies.

Methods: We retrospectively studied 35 patients (25 females, 10 males) with gene mutations or deletion, focusing on their early seizure semiology, the electroencephalogram (EEG) pattern, the effect of treatment, and developmental outcome.

Results: The first seizures were recognizable and consisted of tonic, then clonic, and spasms phases, occurring in sleep at a median age of 6 weeks.

[Epilepsy and other phenotypic features of X-linked intellectual disability caused by the mutations in the KIAA2022 gene].

Objective: To study the literature data and a series of our cases regarding the epilepsy clinic, electroencephalographic changes and other phenotypic features in X-linked intellectual disability (ID) caused by mutations.

Material And Methods: We analyzed the anamnesis of the disease, using medical records from different Russian medical organizations, as well as the results of the genealogical anamnesis, clinical, genetic, electroencephalographic (EEG) and neuroimaging (brain MRI ) examinations of 7 patients (5 girls and 2 boys aged 5 to 13 years) with a confirmed diagnosis of X-linked ID caused by mutations, in whom the clinical picture of the underlying disease was combined with epilepsy.

Results: The main common phenotypic features of patients with X-linked ID caused by the mutations are mental retardation, lack of phrasal speech, motor developmental delay, and dysmorphism.

[Experience in the management of patients with genetic epilepsies and epileptic encephalopathies in the outpatient practice].

Objective: To describe the spectrum of being detected gene mutations in patients with epilepsy in clinical practice of neurologists specializing in epilepsy with an analysis of diagnosed epileptic syndromes, the characteristics of seizures, the timing of a genetic diagnosis, options and treatment effectiveness.

Patients And Methods: The study included 100 patients (40 boys, 60 girls) with epilepsy and/or epileptic encephalopathy and a gene mutation identified. The average age was 6.