84 research outputs found
Antiepileptic drug therapy: Does mechanism of action matter?
No full textThis article represents a synthesis of presentations made by the authors during a scientific meeting held in London on 7 June 2010 and organized by GlaxoSmithKline. Each speaker produced a short précis of his lecture to answer a specific question, resulting in an overview of what we know about the relevance of the mechanisms of action of antiepileptic drugs in determining appropriate combination therapies for the treatment of drug-resistant epilepsy
Therapeutic strategies against epilepsy in Mediterranean countries: a report from an international collaborative survey.
No full textA collaborative survey was performed to compare prescribing strategies for the treatment of epilepsy in Mediterranean countries, based on analysis of 500 questionnaires compiled by physicians in 14 different countries. For partial seizures, carbamazepine was the drug of choice in most countries, whereas the second choice of drug differed widely. For primarily generalized tonic-clonic seizures, valproic acid was usually preferred, but other drugs used widely in some countries included phenobarbital, phenytoin and carbamazepine. Lamotrigine was the most popular second-line drug for primarily generalized tonic-clonic seizures in the European countries. In patients where the initial drug failed, switching to an alternative monotherapy was usually the preferred strategy, but advocates of early use of combination therapy exceeded 30% in the respondents of seven countries. Most respondents, in all countries except Turkey, did not prescribe drugs to prevent recurrence of febrile seizures; however, intermittent prophylaxis with a benzodiazepine was advocated by a considerable number of physicians, and continuous prophylaxis was prescribed by a significant minority of respondents in France, Syria and Tunisia. New drugs were rarely used as first-line treatment due to high cost and inadequate experience. Overall, this survey indicates that there is a wide variability in therapeutic practices between and within countries. This information may be useful for the implementation of national educational activities and for the design of pragmatic trials aimed at comparing different therapeutic strategies
From global campaign to global commitment: The World Health Assembly's Resolution on epilepsy
No full textTuesday May 26, 2015, will be remembered as an historic day in the fight against epilepsy. On that date, the World Health Assembly approved unanimously the Resolution on the Global Burden of Epilepsy and the Need for Coordinated Action at the Country Level to Address its Health, Social and Public Knowledge Implications, which urges Member States to implement a coordinated action against epilepsy and its consequences. This event, which comes almost 20 years after the establishment of the Global Campaign against Epilepsy, is another landmark in the longstanding collaboration among the World Health Organization (WHO), the International League Against Epilepsy (ILAE), and the International Bureau for Epilepsy (IBE) in addressing the needs of people with epilepsy. It also acted as a catalyst for other professional societies, including the World Federation of Neurology (WFN), to join forces in promoting a common action against epilepsy. The Resolution did not happen by chance, but came at the end of a long journey that involved the hard and tireless work of many dedicated individuals around the globe
Exploration of the genetic architecture of idiopathic generalized epilepsies
No full textCopyright © 2006 International League Against EpilepsyPurposeIdiopathic generalized epilepsy (IGE) accounts for approximately 20% of all epilepsies and affects about 0.2% of the general population. The etiology of IGE is genetically determined, but the complex pattern of inheritance suggests an involvement of a large number of susceptibility genes. The objective of the present study was to explore the genetic architecture of common IGE syndromes and to dissect out susceptibility loci predisposing to absence or myoclonic seizures.MethodsGenome-wide linkage scans were performed in 126 IGE-multiplex families of European origin ascertained through a proband with idiopathic absence epilepsy or juvenile myoclonic epilepsy. Each family had at least two siblings affected by IGE. To search for seizure type-related susceptibility loci, linkage analyses were carried out in family subgroups segregating either typical absence seizures or myoclonic and generalized tonic-clonic seizures on awakening.ResultsNonparametric linkage scans revealed evidence for complex and heterogeneous genetic architectures involving linkage signals at 5q34, 6p12, 11q13, 13q22-q31, and 19q13. The signal patterns differed in their composition, depending on the predominant seizure type in the families.ConclusionsOur results are consistent with heterogeneous configurations of susceptibility loci associated with different IGE subtypes. Genetic determinants on 11q13 and 13q22-q31 seem to predispose preferentially to absence seizures, whereas loci on 5q34, 6p12, and 19q13 confer susceptibility to myoclonic and generalized tonic-clonic seizures on awakening.Anne Hempelmann, Kirsten P. Taylor, Armin Heils, Susanne Lorenz, Jean-Francois Prud’Homme, Rima Nabbout, Olivier Dulac, Gabrielle Rudolf, Federico Zara, Amedeo Bianchi, Robert Robinson, R. Mark Gardiner, Athanasios Covanis, Dick Lindhout, Ulrich Stephani, Christian E. Elger, Yvonne G. Weber, Holger Lerche, Peter Nürnberg, Katherine L. Kron, Ingrid E. Scheffer, John C. Mulley, Samuel F. Berkovic, and Thomas Sande
Genome wide high density SNP-based linkage analysis of childhood absence epilepsy identifies a susceptibility locus on chromosome 3p23-p14
No full textChildhood absence epilepsy (CAE) is an idiopathic generalised epilepsy (IGE) characterised by typical absence seizures manifested by transitory loss of awareness with 2.5–4 Hz spike-wave complexes on ictal EEG. A genetic component to the aetiology is well recognised but the mechanism of inheritance and the genes involved are yet to be fully established.
A genome wide single nucleotide polymorphism (SNP)-based high density linkage scan was carried out using 41 nuclear pedigrees with at least two affected members. Multipoint parametric and non-parametric linkage analyses were performed using MERLIN 1.1.1 and a susceptibility locus was identified on chromosome 3p23-p14 (Zmean = 3.9, p < 0.0001; HLOD = 3.3, α = 0.7). The linked region harbours the functional candidate genes TRAK1 and CACNA2D2. Fine-mapping using a tagSNP approach demonstrated disease association with variants in TRAK1
Management of epilepsy
No full textFigures for the incidence of epilepsy in Malta are not available. The overall figure for epilepsy given by the Royal College of General Practitioners (Reid 1960) is 4.82 per 1,000 population. As there is no reason to expect and difference in the incidence in these Islands, one can expect that there are at least 1,500 epileptics in Malta. This would mean that all general practitioners would, at some time, come across a patient with epilepsy.peer-reviewe
Panayiotopoulos syndrome: a consensus view
No full textThe aim of this paper is to promote the correct classification of, and provide guidelines on, the diagnosis and management of panayiotopoulos syndrome (ps). an international consortium of established researchers in the field collaborated to produce a consensus document. the resulting document defines ps, characterizes its electro-clinical features, considers its likely pathogenesis, and provides guidance on appropriate management. we conclude that ps is a common idiopathic, benign seizure disorder of childhood, which should be classified as an autonomic epilepsy, rather than an occipital epilepsy.</p
Characterization of eyelid movements in the spectrum of Jeavons syndrome: semiological analysis by video-EEG
No full textObjetivos: Analisar os movimentos palpebrais nas formas clinicas da sindrome de Jeavons e avaliar o efeito de lentes azuis na fotossensibilidade e na sensibilidade ao fechamento ocular. Metodos: Vinte pacientes com mioclonias palpebrais com ou sem ausencias e 40 controles (20 sujeitos saudaveis; 20 pacientes com Epilepsia Mioclonica Juvenil) foram submetidos a um protocolo de video-eletroencefalograma com uso de sensores palpebrais e de lentes azuis Carl Zeiss com filtro F-452 durante as provas de fechamento palpebral ao comando e fotoestimulacao intermitente. Foram analisados movimentos palpebrais interictais, o fenomeno ictal, o fechamento ocular e o uso das lentes azuis. Os casos foram classificados em grupos eletroclinicos de acordo com Covanis, 2010 e Caraballo et al., 2009. Na analise estatistica, valores de p<0.05 foram considerados significativos. Resultados: Dezessete casos (idades entre 3-35 anos, media de 20.7) eram mulheres. A analise dos movimentos palpebrais interictais nao mostrou diferenca significativa entre os grupos. Entre os casos, dez tinham mioclonias de membros frequentes (Covanis 5 e Caraballo et al., 2),15 tinham crises refratarias ao tratamento (Covanis 1, 2, 4, 5, 6 e Caraballo et al., 1b e 2) e nove apresentavam deficit intelectual (Covanis 1, 2, 4, 6 e Caraballo et al., 1b). As mioclonias palpebrais assumiram a forma de flicker, flutter ou jerk, com descargas generalizadas, ritmo alfa posterior espiculado, ritmo teta ou ausencia de alteracoes eletroencefalograficas. As taxas de piscamentos e de mioclonias palpebrais aumentaram durante a fala e diminuiram durante a leitura. As mioclonias palpebrais foram sempre evocadas pelo fechamento ocular e nao ocorreram durante o piscamento ou na ausencia de luz ambiente. Fotossensibilidade esteve presente em seis (30%) e desapareceu em quatro (67%) com o uso das lentes azuis. Sensibilidade ao fechamento ocular desapareceu com as lentes azuis em 3/13 (23%). Conclusoes: Os movimentos palpebrais fisiologicos dos pacientes com mioclonias palpebrais nao diferem daqueles de individuos normais e as crises de mioclonias podem ocorrer com ou sem alteracoes no eletroencefalograma e na presenca ou nao de luz intermitente, sugerindo participacao do cortex motor na geracao do fenomeno. Lentes F452 sao efetivas na reducao da fotossensibilidade, porem sao menos efetivas na reducao da sensibilidade ao fechamento ocularBV UNIFESP: Teses e dissertaçõe
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