A5081533870- Epilepsy research and treatment
- Pharmacological Effects and Toxicity Studies
- Neuroscience and Neuropharmacology Research
- Genetics and Neurodevelopmental Disorders
- Glycogen Storage Diseases and Myoclonus
- Chemical Reactions and Isotopes
- EEG and Brain-Computer Interfaces
- Pharmaceutical studies and practices
- Neurological disorders and treatments
- Neonatal and fetal brain pathology
- Metabolism and Genetic Disorders
- Epigenetics and DNA Methylation
- Genetic Syndromes and Imprinting
- Infectious Encephalopathies and Encephalitis
- Psychosomatic Disorders and Their Treatments
- Human Health and Disease
- Neurological Disorders and Treatments
- Pregnancy and Medication Impact
- Congenital heart defects research
- Pathogenesis and Treatment of Hiccups
- Neurology and Historical Studies
- Genomics and Rare Diseases
- Autoimmune Neurological Disorders and Treatments
- Neuroendocrine Tumor Research Advances
- Ion channel regulation and function
Hertie Institute for Clinical Brain Research
2017
University of Tübingen
2017
University of Southern Denmark
2017
Federal Agency for Health and Social Development
2016
St.Petersburg V.M.Bekhterev Psychoneurological Research Institute
2012-2013
Research Center of Neurology
2011
Pirogov Russian National Research Medical University
1997-2011
<h3>Objective</h3> We aimed to delineate the neurodevelopmental spectrum associated with <i>SYNGAP1</i> mutations and investigate genotype–phenotype correlations. <h3>Methods</h3> sequenced exome or screened exons of in a total 251 patients disorders. Molecular clinical data from other centres were also collected, focusing on developmental aspects epilepsy phenotype. A review published literature was performed. <h3>Results</h3> describe 17 unrelated affected individuals carrying 13 different...
<h3>Objective:</h3> To examine the role of mutations in <i>GABRB3</i> encoding β<sub>3</sub> subunit GABA<sub>A</sub> receptor individual patients with epilepsy regard to causality, spectrum genetic variants, their pathophysiology, and associated phenotypes. <h3>Methods:</h3> We performed massive parallel sequencing 416 a range epileptic encephalopathies childhood-onset epilepsies recruited additional from other research diagnostic programs. <h3>Results:</h3> identified 22 heterozygous...
Perampanel, an antiseizure drug with α-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid receptor antagonist properties, may have a targeted effect in genetic epilepsies overwhelming glutamate activation. Epilepsies loss of γ-aminobutyric inhibition (e.g., SCN1A), overactive excitatory neurons SCN2A, SCN8A), and variants receptors GRIN2A) hold special interest. We aimed to collect data from large rare epilepsy cohort treated perampanel, detect possible subgroups high efficacy.This...
To gain new insights into the clinical presentation, causes, treatment and prognosis of epilepsia partialis continua (EPC), to develop hypotheses be tested in a prospective investigation.In this retrospective multicenter study, all cases were included that fulfilled these criteria: constantly repeated fragments epileptic seizures, with preserved consciousness, lasting ≥ 1 h representing locally restricted motor or sensory activity. Single episodes when they lasted for minimum day. EPC...
Objectives – Epilepsia partialis continua (EPC) is characterized by localized continuous jerks, from time to with spreading Jacksonian seizures and, more rarely, secondarily generalized tonic-clonic seizures. EPC has numerous possible etiologies. In this paper we describe in the tick-borne Russian spring-summer encephalitis (TBRSSE) and compare it Rasmussen syndrome. Methods We included patients TBRSSE (between 2003 2010). The diagnosis was verified immunology (antibodies against virus)....
The large number of antiepileptic drugs (AEDs) at the physician's disposal provides not only a broad therapeutic potential in treatment epilepsy (EP), but creates difficulties adequate choice AED. sufficient experience management patients with has been gained so far world, based on which International League Against Epilepsy (ILAE), updated classification, adopted basic definition efficiency, remission, resistance, evidence research effectiveness AED therapy, and introduced concept...
Despite significant advances made in epileptology, treatment-resistant epilepsy accounts for approximately 30 % of all forms this disease. Such diseases include, among others, Lennox–Gastaut syndrome – a classic developmental and epileptic encephalopathy with onset childhood, characterized by resistance to therapy, severe course poor prognosis. For patients category, the search new effective antiepileptic drugs remains highly relevant, especially cases where numerous combinations do not...
The large number of antiepileptic drugs (AEDs) at the physician's disposal provides not only a broad therapeutic potential in treatment epilepsy (EP), but creates difficulties adequate choice AED. sufficient experience management patients with has been gained so far world, based on which International League Against Epilepsy (ILAE), updated classification, adopted basic definition efficiency, remission, resistance, evidence research effectiveness AED therapy, and introduced concept...
Epilepsy is one of the most common neurological diseases, especially in childhood and adolescence. The incidence varies from 15 to 113 cases per 100 000 population with maximum among children under 1 year old. prevalence epilepsy high, ranging 5 8 (in some regions – 10 cases) 1000 years Classification disease has great importance for diagnosis, treatment prognosis. article presents a novel strategy classification epileptic seizures, developed 2016. It contains number brand new concepts,...
This article presents updated and revised diagnostic criteria for epilepsy syndromes proposed in 2021 by the Nosology Definitions Taskforce of International League Against Epilepsy (ILAE). The current classification was developed 1989. new ILAE Classification Definition Syndromes is a result huge work many experts from all over world. draft presented on website wide discussion. It includes 4 main sections: 1) definition syndrome with onset neonates infants; 2) childhood; 3) at variable age;...
Women with epilepsy are at particular risk of developing side effects due to antiepileptic drugs (AED). Neuroendocrine disorders in women can be caused by both itself and the therapy. This literature review aims evaluate safety tolerability different AED girls reproductive age, incidence neuroendocrine associated AED, pregnancy outcomes epilepsy. We also provide some own research results. conducted a retrospective analysis data for 345female patients aged between 15 40 years that were...
Angelman's syndrome (AS) is accompanied by specific changes in the EEG and genetically determined epilepsy. To analyze neurological status, on EEG, MRI, course of epilepsy patients with Angelman (observed at Svt. uca`s Institute Child Neurology Epilepsy).47 a verified diagnosis AS (aged 2 to 20 years, mean age 8.5 years; 26 boys 21 girls) were included. The was established DNA methylation 32 sequencing 15 (12 cases deletion 3 nucleotide substitution identified).Of 47 patients, 45 have...
The authors present a detailed literature review, devoted to epilepsy with electrical status epilepticus during slow-wave sleep (ESES), as well own data. issues of classification, etiology, ESES diagnostic criteria, aproaches therapy and prognosis are discussed in the article. Authors pay particular attention description electroencephalographic abnormalities patients including changes electroencephalogram (EEG) seizures intetictal period (first all sleep). EEG is crucial case ESES, it...
Many patients with epilepsy receive treatment in polytherapy. Selection of antiepileptic drugs (AEDs) for the combination should be carried out accordance principles rational polytherapy, taking into account mechanism action, pharmacokinetic (PK) and pharmacodynamic (PD) properties drugs. Along levetiracetam, gabapentin, vigabatrin pregabalin, lacosamide (LCM) shows superior PK profile rating all AED can combined any them. The goal this study was to evaluate efficacy tolerability LCM...
Lennox–Gastaut syndrome (LGS) is a childhood epileptic encephalopathy characterized by frequent polymorphic seizures (including tonic axial seizures), pronounced cognitive impairment, typical changes in the electroencephalogram and drug resistance. Frequency of LGS accounts for approximately 4–10 % all epilepsy. The difficulties diagnosis treatment are associated with presence various that frequently resistant to multiple antiepileptic drugs as well disease evolution age. This review covers...
Since epilepsy is a chronic disease of the nervous system that requires long-term therapy and regular intake antiepileptic drugs, good tolerability crucial for quality life these patients. The main aim treatment creation balance between efficacy therapy. This literature review analyzes safety We paid particular attention to valproate, drug has been used more than 57 years. Valproate remains basic with high well-studied tolerability. also covers problems aggravation in response some effects...
Background. We have accumulated extensive experience in the use of lamotrigine patients with epilepsy; its mechanism action, effectiveness, safety, and tolerability are well known. The results numerous studies indicate high efficacy potentially better compared to other drugs treatment a wide range epilepsy forms epileptic syndromes (focal generalized seizures). These characteristics determined priority administration as initial or alternative monotherapy women epilepsy. Objective: review...
This article provides a detailed description of benign epileptiform discharges childhood (BEDC) as one electroencephalography patterns in children. We emphasize that BEDC are not specific for both idiopathic (genetic) focal epilepsy and general. can be observed number various disorders also neurologically healthy developed classification BEDC-associated states divided into 3 groups: children, children with forms epilepsy, patients neurological without epilepsy. found there 2 main factors...
Despite significant advances in epileptology, approximately one-third of patients suffer from drug-resistant epilepsy. Numerous approaches are currently available to treat epilepsy; however, there still many with treatment-resistant epilepsy, whom antiepileptic drugs ineffective and surgical treatment is impossible. Thus, searching for new effective alternative treatments (such as vagus nerve stimulation) these remains highly relevant. This literature review covers the indications efficacy...