Genetics of the epilepsies: where are we and where are we going?
about
Loss of synaptic Zn2+ transporter function increases risk of febrile seizuresEvaluation of magnetic resonance imaging-negative drug-resistant epilepsyMutations in SLC13A5 cause autosomal-recessive epileptic encephalopathy with seizure onset in the first days of life.The genetic basis of DOORS syndrome: an exome-sequencing studyWhole-exome sequencing in an individual with severe global developmental delay and intractable epilepsy identifies a novel, de novo GRIN2A mutation.Genetic testing preferences in families containing multiple individuals with epilepsy.The phenotypic spectrum of SCN8A encephalopathy.Tau reduction prevents disease in a mouse model of Dravet syndromeStructural and functional correlates of epileptogenesis - does gender matter?EpilepsyGene: a genetic resource for genes and mutations related to epilepsy.Genetic causal attribution of epilepsy and its implications for felt stigma.Genetics of hereditary neurological disorders in childrenGenetic forms of epilepsies and other paroxysmal disordersMutations of the Sonic Hedgehog Pathway Underlie Hypothalamic Hamartoma with Gelastic Epilepsy.Vaccinia-related kinase 2 mediates accumulation of polyglutamine aggregates via negative regulation of the chaperonin TRiC.When Should Genetic Testing Be Performed in Epilepsy Patients?Past and present definitions of epileptogenesis and its biomarkers.Selenium and selenoprotein function in brain disorders.Primer Part 1-The building blocks of epilepsy genetics.Synaptic Zn2+ and febrile seizure susceptibility.The role of genetic testing in epilepsy diagnosis and management.Loss of function of the retinoid-related nuclear receptor (RORB) gene and epilepsy.Meta-Analysis Revives Genome-Wide Association Studies in EpilepsyWWOX-related encephalopathies: delineation of the phenotypical spectrum and emerging genotype-phenotype correlation.A novel de novo mutation of SCN8A (Nav1.6) with enhanced channel activation in a child with epileptic encephalopathy.A recurrent mutation in KCNA2 as a novel cause of hereditary spastic paraplegia and ataxiaHRPU-2, a homologue of mammalian hnRNP U, regulates synaptic transmission by controlling the expression of SLO-2 potassium channel in C. elegans.A Model Program for Translational Medicine in Epilepsy Genetics.Astroglial role in the pathophysiology of status epilepticus: an overview.Epilepsy syndromes during the first year of life and the usefulness of an epilepsy gene panel.
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Genetics of the epilepsies: where are we and where are we going?
description
article científic
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article scientifique
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articolo scientifico
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artigo científico
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bilimsel makale
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scientific article published on April 2013
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
Genetics of the epilepsies: where are we and where are we going?
@en
Genetics of the epilepsies: where are we and where are we going?
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type
label
Genetics of the epilepsies: where are we and where are we going?
@en
Genetics of the epilepsies: where are we and where are we going?
@nl
prefLabel
Genetics of the epilepsies: where are we and where are we going?
@en
Genetics of the epilepsies: where are we and where are we going?
@nl
P2860
P1476
Genetics of the epilepsies: where are we and where are we going?
@en
P2093
Daniel H Lowenstein
Ingo Helbig
P2860
P304
P356
10.1097/WCO.0B013E32835EE6FF
P577
2013-04-01T00:00:00Z