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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. +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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Current Opinion in Neurology, 1997
In the past year we have gained significant insights into the molecular and genetic mechanisms underlying generalized absence seizures, primarily through the study of animal models. Also a new understanding has emerged about the genetic bases of certain syndromes in which generalized myoclonic and tonic-clonic seizures are expressed.
D A, Hosford, S J, Caddick, F H, Lin
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In the past year we have gained significant insights into the molecular and genetic mechanisms underlying generalized absence seizures, primarily through the study of animal models. Also a new understanding has emerged about the genetic bases of certain syndromes in which generalized myoclonic and tonic-clonic seizures are expressed.
D A, Hosford, S J, Caddick, F H, Lin
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Modern achievements in genetic studies of idiopathic generalized epilepsies
Zhurnal nevrologii i psikhiatrii im. S.S. Korsakova, 2018The review presents modern data on the genetics of idiopathic generalized epilepsies. Identified genes encode different structures of neurons, including voltage-dependent channels, receptors of neurotransmitters, protein-associated ion channels and synaptic proteins.
Z, Afawi +3 more
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Temporal patterns of epileptiform discharges in genetic generalized epilepsies
Epilepsy & Behavior, 2016We sought to investigate the temporal patterns and sleep-wake cycle-related epileptiform discharges (EDs) in genetic generalized epilepsies (GGEs).We studied 24-hour ambulatory electroencephalography (EEG) recordings of patients with GGE, diagnosed and classified according to the International League against Epilepsy criteria.
Udaya, Seneviratne +3 more
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Opioid receptor alterations in a genetic model of generalized epilepsy
Brain Research, 1986Autoradiography was used to examine opioid receptor binding in the Mongolian gerbil, a genetic model of the epilepsies. Coronal brain sections of seizure-resistant (SR) and seizure-sensitive (SS) (both pre- and post-seizure conditions) gerbils were labeled with [3H]dihydromorphine.
R J, Lee +4 more
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Molecular genetics of idiopathic generalized epilepsies
Clinical Neurophysiology, 2015Most of idiopathic generalized epilepsies (IGEs) follow a complex genetic inheritance, with only a few rare, large families presenting with an autosomal dominant inheritance. During the past 20 years many genes associated with IGE were discovered, most of which encode ion channels or neurotransmitter receptors, but the question about the total number ...
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