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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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A clinical study of syndromes of idiopathic (genetic) generalized epilepsy
Journal of the Neurological Sciences, 2013Epidemiologic data concerning idiopathic generalized epilepsies (IGEs) are scarce or often unreliable. In the current study, we specifically analyzed the syndromes of IGE based on their demographic, clinical, and EEG findings to determine if other than the seizure type(s) and age of onset, there are any other distinctive features to distinguish these ...
Ali A, Asadi-Pooya +2 more
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Homozygous mutation in TXNRD1 is associated with genetic generalized epilepsy
Free Radical Biology and Medicine, 2017Increased oxidative stress has been widely implicated in the pathogenesis in various forms of human epilepsy. Here, we report a homozygous mutation in TXNRD1 (thioredoxin reductase 1) in a family with genetic generalized epilepsy. TXNRD1 is an essential selenium-containing enzyme involved in detoxification of reactive oxygen species (ROS) and redox ...
Kudin, AP +19 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 20Â 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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Genetic Testing in Prostate Cancer Management: Considerations Informing Primary Care
Ca-A Cancer Journal for Clinicians, 2022Todd M Morgan +2 more
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