Gene mutations in paediatric epilepsies cause NMDA‐pathy, and phasic and tonic GABA‐pathy

Abstract excerpt

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. Genes for which at least five patients...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Epilepsy research and treatment
• Share to Genetics and Neurodevelopmental Disorders
• Share to Neuroscience and Neuropharmacology Research