A companion to the preclinical common data elements for rodent genetic epilepsy models. A Report of the TASK3-WG1B: Pediatric and Genetic models Working Group of the ILAE/AES Joint Translational Task Force.
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DOI: 10.1002/epi4.12642
Abstract: Rodent models of epilepsy remain the cornerstone of research into the mechanisms underlying genetic epilepsy. Reproducibility of experiments using these rodent models, occurring across a diversity of laboratories and commercial vendors, remains an issue impacting… read more here.
Keywords: common data; genetic epilepsy; task3 wg1b; data elements ... See more keywords
Can rodent models manifest pathomechanisms of genetic epilepsy?
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DOI: 10.1111/bph.15443
Abstract: Autosomal dominant sleep-related hypermotor epilepsy (ADSHE; previously autosomal dominant nocturnal frontal lobe epilepsy, ADNFLE), originally reported in 1994, was the first distinct genetic epilepsy proven to be caused by CHNRA4 mutation. In the past two… read more here.
Keywords: epilepsy; genetic epilepsy; rodent models; epileptogenesis ictogenesis ... See more keywords
Headache in idiopathic/genetic epilepsy: Cluster analysis in a large cohort
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DOI: 10.1111/epi.17205
Abstract: The link between headache and epilepsy is more prominent in patients with idiopathic/genetic epilepsy (I/GE). We aimed to investigate the prevalence of headache and to cluster patients with regard to their headache and epilepsy features. read more here.
Keywords: genetic epilepsy; headache; cluster; headache idiopathic ... See more keywords
Precision medicine for genetic epilepsy on the horizon: Recent advances, present challenges, and suggestions for continued progress
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DOI: 10.1111/epi.17332
Abstract: The genetic basis of many epilepsies is increasingly understood, giving rise to the possibility of precision treatments tailored to specific genetic etiologies. Despite this, current medical therapy for most epilepsies remains imprecise, aimed primarily at… read more here.
Keywords: genetic epilepsy; medicine genetic; precision medicine; medicine ... See more keywords
Molecular analysis and prenatal diagnosis of seven Chinese families with genetic epilepsy
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DOI: 10.3389/fnins.2023.1165601
Abstract: Introduction Genetic epilepsy is a large group of clinically and genetically heterogeneous neurological disorders characterized by recurrent seizures, which have a clear association with genetic defects. In this study, we have recruited seven families from… read more here.
Keywords: epilepsy; prenatal diagnosis; genetic epilepsy; molecular analysis ... See more keywords