Epilepsy syndrome-associated balance dysfunction assessed by static posturography

AbstractPurposeTo compare subclinical balance dysfunction in patients with various epilepsy syndromes with apparently healthy subjects.MethodsTwenty-seven patients with localization-related epilepsy (LRE), 19 with primary generalized epilepsy (PGE), who had no subjective complaints of impaired balance and no abnormal neurologic findings on examination, and 22 apparently healthy subjects, underwent static posturography using the Posture Scale Analyzer (PSA) system.ResultsSway index was higher in patients compared to healthy subjects in all tests, significant for single leg stance (p=0.005). Patients with PGE had a higher sway index compared to patients with LRE in six of the tests, also significant for single leg stance (p=0.027). This difference was not affected by the type of AED treatment or disease duration.ConclusionPosturography can improve balance function assessment in patients with epilepsy, demonstrate subclinical impairment in seemingly asymptomatic patients, and further characterize balance deficits in different epilepsy syndromes

What is the current alcohol labelling practice in the WHO European Region and what are barriers and facilitators to development and implementation of alcohol labelling policy?

The WHO European Region has the highest levels of alcohol consumption per capita in the world, yet alcohol labelling, a WHO-recommended practice that provides consumer information on the ingredients, nutritional values and harms of alcohol, is not mandatory. This report synthesizes evidence on alcohol labelling practices in the Region and aims to describe factors affecting implementation. To date, the introduction of alcohol labelling policy as part of a larger package of alcohol policy measures created with strong political support and consumer pressure has proved successful in providing consumers with information, although practices have been hindered by slow procedures in some parts of the Region, opposition from international institutions and the alcohol industry, and the lack of set labelling specifications and monitoring activities. Policy considerations for the development of successful labelling legislation should ideally address both health information and nutritional information, ensure regulated message presentation and implement independent monitoring and evaluation of measures

Multiplex families with epilepsy: success of clinical and molecular genetic characterization

Objective: To analyze the clinical syndromes and inheritance patterns of multiplex families with epilepsy toward the ultimate aim of uncovering the underlying molecular genetic basis. Methods: Following the referral of families with 2 or more relatives with epilepsy, individuals were classified into epilepsy syndromes. Families were classified into syndromes where at least 2 family members had a specific diagnosis. Pedigrees were analyzed and molecular genetic studies were performed as appropriate. Results: A total of 211 families were ascertained over an 11-year period in Israel. A total of 169 were classified into broad familial epilepsy syndrome groups: 61 generalized, 22 focal, 24 febrile seizure syndromes, 33 special syndromes, and 29 mixed. A total of 42 families remained unclassified. Pathogenic variants were identified in 49/211 families (23%). The majority were found in established epilepsy genes (e.g., SCN1A, KCNQ2, CSTB), but in 11 families, this cohort contributed to the initial discovery (e.g., KCNT1, PCDH19, TBC1D24). We expand the phenotypic spectrum of established epilepsy genes by reporting a familial LAMC3 homozygous variant, where the predominant phenotype was epilepsy with myoclonic-atonic seizures, and a pathogenic SCN1A variant in a family where in 5 siblings the phenotype was broadly consistent with Dravet syndrome, a disorder that usually occurs sporadically. Conclusion: A total of 80% of families were successfully classified, with pathogenic variants identified in 23%. The successful characterization of familial electroclinical and inheritance patterns has highlighted the value of studying multiplex families and their contribution towards uncovering the genetic basis of the epilepsies.Zaid Afawi, Karen L. Oliver, Sara Kivity, Aziz Mazarib, Ilan Blatt, Miriam Y. Neufeld, Katherine L. Helbig, Hadassa Goldberg-Stern, Adel J. Misk, Rachel Straussberg, Simri Walid, Muhammad Mahajnah, Tally Lerman-Sagie, Bruria Ben-Zeev, Esther Kahana, Rafik Masalha, Uri Kramer, Dana Ekstein, Zamir Shorer, Robyn H. Wallace, Marie Mangelsdorf, James N. MacPherson, Gemma L. Carvill, Heather C. Mefford, Graeme D. Jackson, Ingrid E. Scheffer, Melanie Bahlo, Jozef Gecz, Sarah E. Heron, Mark Corbett, John C. Mulley, Leanne M. Dibbens, Amos D. Korczyn and Samuel F. Berkovi