According to the International League Against Epilepsy’s (ILAE) 2017 classification of epilepsies, genetic epilepsies are defined as epilepsies that result directly from a known or presumed known genetic condition and in which seizures are a core symptom of the disorder [2].

2023年3月10日 · In this review, important up-to-date genetic mechanisms of GGE were discussed. According to the 2022 International League Against Epilepsy (ILAE) classification recommendations, epilepsies with generalized seizure types and generalized spikewave are collectively referred to as "genetic generalized epilepsy" (GGEs).

2024年2月12日 · Idiopathic generalized epilepsy is a subtype of generalized epilepsy and consists of childhood absence epilepsy, juvenile absence epilepsy, juvenile myoclonic epilepsy, and generalized tonic-clonic seizures alone. It is estimated that over 50 million people are affected by epilepsy worldwide.

2023年8月31日 · Subtype analysis revealed markedly different genetic architectures between focal and generalized epilepsies. Gene-set analyses of GGE signals implicate synaptic processes in both excitatory and...

2024年11月15日 · Epilepsy affects 1% globally, with key mutations in SCN1A, SCN2A, GABRA1, and SYNGAP1. Genetic advancements like GWAS improve diagnostics and enable personalized treatments. Epigenetic changes in MBD5 and HDACs alter gene expression and synaptic plasticity, offering new therapeutic targets.

2023年9月27日 · Variable phenotypes are reflected in a range of etiologies including genetic, infectious, metabolic, immune, acquired/structural (resulting from, for example, a severe head injury or stroke), or idiopathic. This review will focus specifically on epilepsies with a genetic cause, genetic testing, and biomarkers in epilepsy.

2022年4月2日 · We describe the epidemiology of genetic epilepsies, review the progress made in scientific methods and technology which allowed for the current widespread use of genetic testing in clinical practice, and provide a brief report of some upcoming methods and genetic tools currently used in research and likely to come to the clinical domain in the c...

In the monogenic epilepsies, targeting the abnormal gene or gene products may not always be an effective strategy. Gene mutations often have a developmental impact, and therefore, reversing the genetic cause postnatally may not be sufficient to undo the effects of that gene mutation on neurodevelopment, indicating that early treatment is likely ...

2019年9月4日 · Regarding the epilepsies, innovations centred around technology, analytics, and collaboration have led to remarkable progress in gene discovery and have revealed the diverse array of genetic mechanisms and neurobiological pathways that contribute to these disorders.

2018年5月9日 · The genetic generalized epilepsies (GGEs) are mainly genetically determined disorders. Although inheritance in most cases appears to be complex, involving multiple genes, variants of a number of genes are known to contribute.