Forward genetics-based approaches to understanding the systems biology and molecular mechanisms of epilepsy
AD Shevlyakov, TO Kolesnikova, MS de Abreu… - International Journal of …, 2023 - mdpi.com
Epilepsy is a highly prevalent, severely debilitating neurological disorder characterized by
seizures and neuronal hyperactivity due to an imbalanced neurotransmission. As genetic …
seizures and neuronal hyperactivity due to an imbalanced neurotransmission. As genetic …
Progressive Myoclonus Epilepsy: A Scoping Review of Diagnostic, Phenotypic and Therapeutic Advances
V Zimmern, B Minassian - Genes, 2024 - mdpi.com
The progressive myoclonus epilepsies (PME) are a diverse group of disorders that feature
both myoclonus and seizures that worsen gradually over a variable timeframe. While each of …
both myoclonus and seizures that worsen gradually over a variable timeframe. While each of …
The phenotypic spectrum associated with loss-of-function variants in monogenic epilepsy genes in the general population
Variants in monogenic epilepsy genes can cause phenotypes of varying severity. For
example, pathogenic variants in the SCN1A gene can cause the severe, sporadic, and drug …
example, pathogenic variants in the SCN1A gene can cause the severe, sporadic, and drug …