Epilepsy is the most common chronic neurological disease, affecting nearly 1%-2% of the world's population. Current pharmacological treatment and regimen adjustments are aimed at controlling seizures; however, they are ineffective in one-third of the patients. Although neuronal hyperexcitability was previously thought to be mainly due to ion channel alterations, current research has revealed other contributing molecular pathways, including processes involved in cellular signaling, energy metabolism, protein synthesis, axon guidance, inflammation, and others. Some forms of drug-resistant epilepsy are caused by genetic defects that constitute potential targets for precision therapy. Although such approaches are increasingly important, they are still in the early stages of development. This review aims to provide a summary of practical aspects of the employment of in vitro human cell culture models in epilepsy diagnosis, treatment, and research. First, we briefly summarize the genetic testing that may result in the detection of candidate pathogenic variants in genes involved in epilepsy pathogenesis. Consequently, we review existing in vitro cell models, including induced pluripotent stem cells and differentiated neuronal cells, providing their specific properties, validity, and employment in research pipelines. We cover two methodological approaches. The first approach involves the utilization of somatic cells directly obtained from individual patients, while the second approach entails the utilization of characterized cell lines. The models are evaluated in terms of their research and clinical benefits, relevance to the in vivo conditions, legal and ethical aspects, time and cost demands, and available published data. Despite the methodological, temporal, and financial demands of the reviewed models they possess high potential to be used as robust systems in routine testing of pathogenicity of detected variants in the near future and provide a solid experimental background for personalized therapy of genetic epilepsies. PLAIN LANGUAGE SUMMARY: Epilepsy affects millions worldwide, but current treatments fail for many patients. Beyond traditional ion channel alterations, various genetic factors contribute to the disorder's complexity. This review explores how in vitro human cell models, either from patients or from cell lines, can aid in understanding epilepsy's genetic roots and developing personalized therapies. While these models require further investigation, they offer hope for improved diagnosis and treatment of genetic forms of epilepsy.
- MeSH
- buněčné kultury * MeSH
- epilepsie * genetika terapie MeSH
- indukované pluripotentní kmenové buňky MeSH
- lidé MeSH
- neurony metabolismus MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
- přehledy MeSH
- MeSH
- antikonvulziva MeSH
- epilepsie * chirurgie diagnostické zobrazování terapie MeSH
- fokální kortikální dysplazie komplikace MeSH
- genetická terapie MeSH
- genetické testování MeSH
- komplexní zdravotní péče MeSH
- lidé MeSH
- neurochirurgické výkony MeSH
- předoperační vyšetření metody MeSH
- výběr pacientů MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- novinové články MeSH
- MeSH
- alkoholová abstinence MeSH
- epilepsie * farmakoterapie terapie MeSH
- lidé MeSH
- spánek MeSH
- Check Tag
- lidé MeSH
- MeSH
- antikonvulziva aplikace a dávkování MeSH
- cílená molekulární terapie metody trendy MeSH
- diagnostické techniky neurologické trendy MeSH
- elektrická stimulace přístrojové vybavení MeSH
- elektroencefalografie trendy MeSH
- epilepsie * diagnóza terapie MeSH
- individualizovaná medicína metody trendy MeSH
- lidé MeSH
- neurologie * trendy MeSH
- přehodnocení terapeutických indikací léčivého přípravku trendy MeSH
- transplantace trendy MeSH
- umělá inteligence MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- přehledy MeSH
BACKGROUND: The use of patient-reported outcomes (PRO) in clinical practice is gaining increasing attention. This study aimed to provide a critical assessment of the current state-of-the-art and beliefs about the use of PRO in the management of people with epilepsy across some European countries. METHODS: Structured interviews were conducted with European experts to collect insights about (I) the personal experience with PRO; (II) the value and impact of PRO in the decision-making process at the national level; and (III) the interest for and use of PRO by national health authorities. RESULTS: Nine neurologists (Austria, Belgium, Czechia, Denmark, France, Greece, Italy, Poland, and United Kingdom), three health economists (Portugal, Romania, and Sweden), and one epidemiologist (Slovakia) participated. They all stated that PRO are collected at their own countries in the context of clinical trials and/or specific projects. During everyday clinical practice, PRO are collected routinely/almost routinely in Austria and Sweden and only at the discretion of the treating physicians in Czechia, Denmark, France, Greece, and Portugal. There was complete consensus about the favorable impact that the PRO can have in terms of clinical outcomes, healthcare resources utilization, and general patient satisfaction. Only participants from Portugal and Sweden answered that the PRO are perceived as very important by the National Health Authorities of their respective countries. CONCLUSIONS: Differences exist in attitudes and perspectives about PRO in epilepsy across Europe. An active plan is warranted to harmonize the measurement of PRO and ensure they can be relevant to people with epilepsy and health services.
Deep brain stimulation (DBS) is an established method in the treatment of not only Parkinson's disease motor complications but also dystonia and tremor, and there are data supporting the efficacy of DBS in epilepsy and some psychiatric problems. The alleviation of the neurologic problems may enable females of childbearing age to consider pregnancy because of being able to take care of their child. The aim of the study is to provide a review of the data available on the effect of DBS on the course of pregnancy and delivery in patients suffering from diseases amenable for DBS treatment (Parkinson's disease, dystonia, obsessive compulsive disorder, Tourette's syndrome, epilepsy). Although data available in the literature on pregnancy and childbirth in patients with an implanted active DBS system are limited to small case series and case reports, the number of younger patients implanted with DBS systems will potentially require more attention beyond specialized DBS centers. In emergency deliveries, general obstetricians and neurosurgeons should be provided with a protocol to prevent injuries to the implanted system with potentially devastating consequences for the patient.
- MeSH
- dítě MeSH
- dystonie * terapie MeSH
- epilepsie * terapie MeSH
- hluboká mozková stimulace * metody MeSH
- lidé MeSH
- Parkinsonova nemoc * terapie MeSH
- těhotenství MeSH
- Check Tag
- dítě MeSH
- lidé MeSH
- těhotenství MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- přehledy MeSH
Epilepsy is a common neurological disorder, with one third of patients not responding to currently available antiepileptic drugs. The proportion of pharmacoresistant epilepsies has remained unchanged for many decades. To cure epilepsy and control seizures requires a paradigm shift in the development of new approaches to epilepsy diagnosis and treatment. Contemporary medicine has benefited from the exponential growth of computational modeling, and the application of network dynamics theory to understanding and treating human brain disorders. In epilepsy, the introduction of these approaches has led to personalized epileptic network modeling that can explore the patient's seizure genesis and predict the functional impact of resection on its individual network's propensity to seize. The application of the dynamic systems approach to neurostimulation therapy of epilepsy allows designing stimulation strategies that consider the patient's seizure dynamics and long-term fluctuations in the stability of their epileptic networks. In this article, we review, in a nontechnical fashion suitable for a broad neuroscientific audience, recent progress in personalized dynamic brain network modeling that is shaping the future approach to the diagnosis and treatment of epilepsy.
- MeSH
- antikonvulziva terapeutické užití MeSH
- epilepsie * terapie farmakoterapie MeSH
- lidé MeSH
- mozek MeSH
- záchvaty MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
- přehledy MeSH
- MeSH
- dítě MeSH
- dospělí MeSH
- epilepsie parciální diagnóza etiologie komplikace MeSH
- epilepsie * diagnóza klasifikace komplikace patofyziologie terapie MeSH
- Landau-Kleffnerův syndrom diagnóza komplikace MeSH
- lidé MeSH
- parasomnie * diagnóza etiologie patofyziologie terapie MeSH
- poruchy probouzení ze spánku etiologie MeSH
- poruchy spánku a bdění etiologie klasifikace MeSH
- Praderův-Williho syndrom diagnóza komplikace MeSH
- Check Tag
- dítě MeSH
- dospělí MeSH
- lidé MeSH
- mužské pohlaví MeSH
- ženské pohlaví MeSH
- Publikační typ
- kazuistiky MeSH
- MeSH
- deprese etiologie terapie MeSH
- dospělí MeSH
- emoce MeSH
- epilepsie * komplikace psychologie terapie MeSH
- kognitivně behaviorální terapie * metody MeSH
- lidé MeSH
- panická porucha etiologie terapie MeSH
- statistika jako téma MeSH
- topiramat terapeutické užití MeSH
- úzkostné poruchy etiologie klasifikace terapie MeSH
- Check Tag
- dospělí MeSH
- lidé MeSH
- mužské pohlaví MeSH
- ženské pohlaví MeSH
- Publikační typ
- klinická studie MeSH
- práce podpořená grantem MeSH
- přehledy MeSH
