Results 201 to 210 of about 2,936,182 (239)

Immunogenetic protective factors in Genetic Generalized Epilepsy

Epilepsy Research, 2020
Genetic 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, Ricardo, Martins-Ferreira, Ana Marta, Ferreira, Sandra, Brás, Cláudia, Carvalho, Andreia, Bettencourt, Raquel, Samões, Fábio, Monteiro, Joel, Freitas, Rui, Chorão, João, Lopes, João, Ramalheira, Berta Martins, da Silva, Paulo Pinho, Costa, António Martins, da Silva, Bárbara, Leal   +15 more
openaire   +2 more sources

Genetics of idiopathic generalized epilepsy: An overview

Neurology India, 2013
Idiopathic 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, U, Satyanarayana, Anjana, Munshi   +2 more
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Defects at the Crossroads of GABAergic Signaling in Generalized Genetic Epilepsies [PDF]

Epilepsy Research, 2017
Seizure disorders are very common and affect 3% of the general population. The recurrent unprovoked seizures that are also called epilepsies are highly diverse as to both underlying genetic basis and clinic presentations. Recent genetic advances and sequencing technologies indicate that many epilepsies previously thought to be without known causes, or ...
Jing-Qiong Kang
exaly   +3 more sources

Genetics of Epileptic Networks: from Focal to Generalized Genetic Epilepsies

Current Neurology and Neuroscience Reports, 2020
Seizures 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, Ryan K. C. Yuen, Danielle M. Andrade   +2 more
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Ethnic Variation of Genetic (Idiopathic) Generalized Epilepsy in Malaysia [PDF]

Seizure: the Journal of the British Epilepsy Association, 2017
Ethnic variation in epilepsy classification was reported in the Epilepsy Phenome/Genome Project. This study aimed to determine the ethnic variation in the prevalence of genetic (idiopathic) generalized epilepsy (GGE) and GGE with family history in a multi-ethnic Asian population in Malaysia.In this cross-sectional study, 392 patients with a clinical ...
Kheng Seang Lim, Ching-Ching Ng, Chong Tin Tan   +2 more
exaly   +4 more sources

Genetic Generalized Epilepsies

2019
The 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
openaire   +1 more source

The contribution of next generation sequencing to epilepsy genetics

Expert Review of Molecular Diagnostics, 2015
During 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, Dahl, Hans A., Helbig, Ingo   +2 more
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Atypical EEG abnormalities in genetic generalized epilepsies

Clinical Neurophysiology, 2016
Bilateral, 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, Graham, Hepworth, Mark, Cook, Wendyl, D'Souza   +3 more
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Clearance for Driving in Genetic Generalized Epilepsy

Journal of Child Neurology
A 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, Kiarash Sadrieh, Eesha Singh
openaire   +2 more sources

Generalized epilepsies

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
openaire   +2 more sources