53 research outputs found
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
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
Actions related to International Bureau for Epilepsy during my term as President 2013–2017
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