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Glutamatergic neuron-targeted loss of LGI1 epilepsy gene results in seizuresIon channels in genetic and acquired forms of epilepsy.A variant of KCC2 from patients with febrile seizures impairs neuronal Cl- extrusion and dendritic spine formationInsights from zebrafish and mouse models on the activity and safety of ar-turmerone as a potential drug candidate for the treatment of epilepsyGenome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32.Protein expression of small conductance calcium-activated potassium channels is altered in inferior colliculus neurons of the genetically epilepsy-prone ratRecurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsiesGenetic basis of pediatric epilepsy syndromes.Lgi1 null mutant mice exhibit myoclonic seizures and CA1 neuronal hyperexcitabilityDrosophila as a model for epilepsy: bss is a gain-of-function mutation in the para sodium channel gene that leads to seizures.Genetics of epilepsy: The testimony of twins in the molecular eraNeuronal voltage-gated K+ (Kv) channels function in macromolecular complexes.Novel mutation in potassium channel related gene KCTD7 and progressive myoclonic epilepsy.Identification of compounds with anti-convulsant properties in a zebrafish model of epileptic seizuresGenetically complex epilepsies, copy number variants and syndrome constellations.Nerve excitability studies characterize Kv1.1 fast potassium channel dysfunction in patients with episodic ataxia type 1.Impaired action potential initiation in GABAergic interneurons causes hyperexcitable networks in an epileptic mouse model carrying a human Na(V)1.1 mutationGenetic controls balancing excitatory and inhibitory synaptogenesis in neurodevelopmental disorder models.Frontier of epilepsy research - mTOR signaling pathway.Gene-wide tagging study of the association between KCNT1 polymorphisms and the susceptibility and efficacy of genetic generalized epilepsy in Chinese population.Correlation between human seizure-related gene 6 variants and idiopathic generalized epilepsy in a Southern Chinese Han population.Mutational analysis of CHRNB2, CHRNA2 and CHRNA4 genes in Chinese population with autosomal dominant nocturnal frontal lobe epilepsyAugmented currents of an HCN2 variant in patients with febrile seizure syndromesIn Silico Prediction of Gamma-Aminobutyric Acid Type-A Receptors Using Novel Machine-Learning-Based SVM and GBDT ApproachesEpi4K: gene discovery in 4,000 genomes.In vivo loss of slow potassium channel activity in individuals with benign familial neonatal epilepsy in remissionModel systems for studying cellular mechanisms of SCN1A-related epilepsy.Shared loci for migraine and epilepsy on chromosomes 14q12-q23 and 12q24.2-q24.3.Multiple molecular mechanisms for a single GABAA mutation in epilepsy.Genetic variations and associated pathophysiology in the management of epilepsy.Mutations in GABRG2 receptor gene are not a major factor in the pathogenesis of mesial temporal lobe epilepsy in Indian population.Neurological manifestations of oculodentodigital dysplasia: a Cx43 channelopathy of the central nervous system?Severe epilepsy syndromes of early childhood: the link between genetics and pathophysiology with a focus on SCN1A mutations.A locus on mouse Ch10 influences susceptibility to limbic seizure severity: fine mapping and in silico candidate gene analysis.Axon initial segment dysfunction in epilepsy.Seizure and epilepsy: studies of seizure disorders in Drosophila.The electroencephalogram of idiopathic generalized epilepsy.Sodium channels, the electrogenisome and the electrogenistat: lessons and questions from the clinic.Sodium channels and the neurobiology of epilepsy.The epilepsy phenome/genome project.
P2860
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P2860
description
2008 nî lūn-bûn
@nan
2008 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2008 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
2008年の論文
@ja
2008年論文
@yue
2008年論文
@zh-hant
2008年論文
@zh-hk
2008年論文
@zh-mo
2008年論文
@zh-tw
2008年论文
@wuu
name
Mechanisms of human inherited epilepsies.
@ast
Mechanisms of human inherited epilepsies.
@en
type
label
Mechanisms of human inherited epilepsies.
@ast
Mechanisms of human inherited epilepsies.
@en
prefLabel
Mechanisms of human inherited epilepsies.
@ast
Mechanisms of human inherited epilepsies.
@en
P1476
Mechanisms of human inherited epilepsies.
@en
P2093
Steven Petrou
P356
10.1016/J.PNEUROBIO.2008.09.016
P577
2008-10-05T00:00:00Z