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Gene mutations in paediatric epilepsies cause NMDA‐pathy, and phasic and tonic GABA‐pathy - Gataullina - - Developmental Medicine & Child Neurology - Wiley Online Library


Описание

The aim of this study was to disentangle mechanisms of epileptogenesis in monogenic epilepsies in children. We reviewed paediatric monogenic epilepsies excluding brain malformation or an inborn error of metabolism, but including the gene function whether there is loss‐of‐function or gain‐of‐function, age at gene expression when available, and associated epilepsy syndrome.. To read the full article, log in using your NHS Athens details. To access full-text: click “Log in/Register” (top right hand side). Click ‘Institutional Login’ then select 'OpenAthens Federation', then ‘NHS England’. Enter your Athens details to view the article.

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