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Genetic Generalized Epilepsies
Journal of Clinical Neurophysiology, 2012In the International League Against Epilepsy's most recent revision of classification and terminology, the term idiopathic epilepsy, previously used to describe those epilepsies whose cause was unknown, but presumed genetic, has been removed. It has been replaced by the term genetic epilepsy, only to be used to describe epilepsy in which the etiology ...
William B, Gallentine, Mohamad A, Mikati
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Genetic Polymorphisms and Idiopathic Generalized Epilepsies
Pediatric Neurology, 2007In recent years, progress in understanding the genetic basis of idiopathic generalized epilepsies has proven challenging because of their complex inheritance patterns and genetic heterogeneity. Genetic polymorphisms offer a convenient avenue for a better understanding of the genetic basis of idiopathic generalized epilepsy by providing evidence for the
Lucarini, Nazzareno +4 more
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Immunogenetic protective factors in Genetic Generalized Epilepsy
Epilepsy Research, 2020Genetic Generalized Epilepsies (GGEs) are a heterogeneous group of syndromes characterized by generalized seizure activity that affects both hemispheres, with mainly genetic causes. Neuroinflammation has been established as an important mechanism in epileptogenesis.
João, Chaves +15 more
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Social impairment and stigma in genetic generalized epilepsies
Epilepsy & Behavior, 2020Patients with epilepsy have poor social outcome. Multifactorial factors are usually involved, but among them, stigma features may have an important role. Genetic generalized epilepsies (GGEs) were previously considered "benign" syndromes. The aim of our study was to assess social impairment and stigma in GGE and to evaluate differences between the ...
Denis, Gabriel +7 more
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Clearance for Driving in Genetic Generalized Epilepsy
Journal of Child NeurologyA key aspect of management of genetic generalized epilepsy involves assessing seizure control and deciding suitability for driving motor vehicles. We surveyed child neurologists and pediatric epileptologists on key questions that practitioners should ask prior to providing clearance for driving.
Jay Desai
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Genetics of idiopathic generalized epilepsy: An overview
Neurology India, 2013Idiopathic generalized epilepsy (IGE) is a common type of epilepsy. Strong support for a genetic role in IGE comes from twin and family studies. Several subtypes of IGE have been reported but families often have members affected with different subtypes.
D K V, Prasad +2 more
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The contribution of next generation sequencing to epilepsy genetics
Expert Review of Molecular Diagnostics, 2015During the last decade, next generation sequencing technologies such as targeted gene panels, whole exome sequencing and whole genome sequencing have led to an explosion of gene identifications in monogenic epilepsies including both familial epilepsies and severe epilepsies, often referred to as epileptic encephalopathies. The increased knowledge about
Møller, Rikke S.; id_orcid 0000-0002-9664-1448 +2 more
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Genetics of Epileptic Networks: from Focal to Generalized Genetic Epilepsies
Current Neurology and Neuroscience Reports, 2020Seizures can arise in neocortical, thalamocortical, limbic or brainstem networks. Here, we review recent genetic mechanisms implicated in focal and genetic generalized epilepsies (GGEs).Pathogenic variation in GAP activity toward RAGs 1 (GATOR1) complex genes (i.e., DEPDC5, NPRL2 and NPRL3) mainly result in focal epilepsies.
Farah Qaiser +2 more
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Genetic Generalized Epilepsies
2019The purpose of this chapter is to delineate the clinical and EEG features of the genetic generalized epilepsies, which are a heterogeneous group of conditions, linked by strict criteria. Both the EEG and seizure characteristics may be helpful in the clinical management of patients and avoid unuseful therapies and diagnostic procedures.
Aglaia Vignoli, Maria Paola Canevini
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Atypical EEG abnormalities in genetic generalized epilepsies
Clinical Neurophysiology, 2016Bilateral, symmetric and synchronous generalized epileptiform activity is considered to be the typical electroencephalographic (EEG) abnormality in genetic generalized epilepsy (GGE). We sought to study atypical EEG abnormalities in a systematic way based on 24-h ambulatory EEG recordings.The diagnosis of GGE was validated and classified into syndromes
Udaya, Seneviratne +3 more
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