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See detailSpectrum of GABAA receptor variants in epilepsy
Maljevic, Snezana; Møller, Rikke S.; Reid, Christopher A. et al

in Current Opinion in Neurology (2019)

Purpose of review: Recent publications point to an increasingly important role of variants in genes encoding GABAA receptor subunits associated with both common and rare forms of epilepsies. The aim of ... [more ▼]

Purpose of review: Recent publications point to an increasingly important role of variants in genes encoding GABAA receptor subunits associated with both common and rare forms of epilepsies. The aim of this review is to give an overview of the current clinical phenotypes, genetic findings and pathophysiological mechanisms related to GABAA receptor variants. Recent findings: Early work showed that inherited variants in GABRG2 and GABRA1 cause relatively mild forms of monogenic epilepsies in large families. More recent studies have revealed that de novo variants in several GABAA receptor genes cause severe developmental and epileptic encephalopathies, inherited variants cause remarkably variable phenotypes within the same pedigrees ranging from asymptomatic carriers to developmental and epileptic encephalopathies, and variants in all GABAA receptor genes are enriched in common forms of epilepsy, namely rolandic epilepsy and genetic generalized epilepsy. Analyses from cellular expression systems and mouse models suggest that all variants cause a loss of GABAA receptor function resulting in GABAergic disinhibition. Summary: Genetic studies have revealed a crucial role of the GABAergic system in the underlying pathogenesis of various forms of common and rare epilepsies. Our understanding of functional consequences of GABAA receptor variants provide an opportunity to develop precision-based therapeutic strategies that are hopefully free from the side-effect burden seen with currently available GABAergic drugs. [less ▲]

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See detailVideo game play, attention, and learning: how to shape the development of attention and influence learning?
Cardoso-Leite, Pedro UL; Bavelier, Daphne

in Current opinion in neurology (2014), 27(2), 185-91

PURPOSE OF REVIEW: The notion that play may facilitate learning has long been touted. Here, we review how video game play may be leveraged for enhancing attentional control, allowing greater cognitive ... [more ▼]

PURPOSE OF REVIEW: The notion that play may facilitate learning has long been touted. Here, we review how video game play may be leveraged for enhancing attentional control, allowing greater cognitive flexibility and learning and in turn new routes to better address developmental disorders. RECENT FINDINGS: Video games, initially developed for entertainment, appear to enhance the behavior in domains as varied as perception, attention, task switching, or mental rotation. This surprisingly wide transfer may be mediated by enhanced attentional control, allowing increased signal-to-noise ratio and thus more informed decisions. SUMMARY: The possibility of enhancing attentional control through targeted interventions, be it computerized training or self-regulation techniques, is now well established. Embedding such training in video game play is appealing, given the astounding amount of time spent by children and adults worldwide with this media. It holds the promise of increasing compliance in patients and motivation in school children, and of enhancing the use of positive impact games. Yet for all the promises, existing research indicates that not all games are created equal: a better understanding of the game play elements that foster attention and learning as well as of the strategies developed by the players is needed. Computational models from machine learning or developmental robotics provide a rich theoretical framework to develop this work further and address its impact on developmental disorders. [less ▲]

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