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Five ADNFLE mutations reduce the Ca2+ dependence of the mammalian alpha4beta2 acetylcholine responseIncreased sensitivity of the neuronal nicotinic receptor alpha 2 subunit causes familial epilepsy with nocturnal wandering and ictal fearDisruption of diacylglycerol kinase delta (DGKD) associated with seizures in humans and miceThe Intracellular Loop of the Glycine Receptor: It's not all about the SizeGenetic epilepsy syndromes without structural brain abnormalities: clinical features and experimental modelsSeizures and enhanced cortical GABAergic inhibition in two mouse models of human autosomal dominant nocturnal frontal lobe epilepsy.The α7 nicotinic acetylcholine receptor function in hippocampal neurons is regulated by the lipid composition of the plasma membraneGenetics and epilepsy.Altered activity-rest patterns in mice with a human autosomal-dominant nocturnal frontal lobe epilepsy mutation in the β2 nicotinic receptor.Novel Mutations in Synaptic Transmission Genes Suppress Neuronal Hyperexcitation in Caenorhabditis elegans.Molecular tuning of fast gating in pentameric ligand-gated ion channels.PRIMA1 mutation: a new cause of nocturnal frontal lobe epilepsyNeural systems governed by nicotinic acetylcholine receptors: emerging hypotheses.Pearls & Oysters: A case of refractory nocturnal seizures: Putting out fires without smokeGenetic mechanisms that underlie epilepsy.Molecular basis of Mendelian idiopathic epilepsies.Susceptibility genes for complex epilepsy.Epileptogenic channelopathies: experimental models of human pathologies.Nicotine is a selective pharmacological chaperone of acetylcholine receptor number and stoichiometry. Implications for drug discovery.Crystal structure and dynamics of a lipid-induced potential desensitized-state of a pentameric ligand-gated channel.Animal models for autosomal dominant frontal lobe epilepsy: on the origin of seizures.Recent advances in gene manipulation and nicotinic acetylcholine receptor biology.An outline of desensitization in pentameric ligand-gated ion channel receptors.Differential brain transcriptome of beta4 nAChR subunit-deficient mice: is it the effect of the null mutation or the background strain?Neuronal nicotinic receptors in sleep-related epilepsy: studies in integrative biology.PCDHB14- and GABRB1-like nervous system developmental genes are altered during early neuronal differentiation of NCCIT cells treated with ethanol.The role of genetics and ethnicity in epilepsy management.Neuronal Nicotinic Acetylcholine Receptors and Epilepsy.Distinctive effects of nicotinic receptor intracellular-loop mutations associated with nocturnal frontal lobe epilepsy.Is too much inhibition to blame in autosomal dominant nocturnal frontal lobe epilepsy?Mice expressing the ADNFLE valine 287 leucine mutation of the Β2 nicotinic acetylcholine receptor subunit display increased sensitivity to acute nicotine administration and altered presynaptic nicotinic receptor function.Nicotine normalizes intracellular subunit stoichiometry of nicotinic receptors carrying mutations linked to autosomal dominant nocturnal frontal lobe epilepsy.Tolerance to pentylentetrazol-induced convulsions and protection of cerebrovascular integrity by chronic nicotine.Resolution of epileptic encephalopathy following treatment with transdermal nicotine.Pleiotropic functional effects of the first epilepsy-associated mutation in the human CHRNA2 gene.GABA A Receptor Coupling Junction and Pore GABRB3 Mutations are Linked to Early-Onset Epileptic Encephalopathy.Ion Channels in Genetic Epilepsy: From Genes and Mechanisms to Disease-Targeted Therapies.Alteration of the in vivo nicotinic receptor density in ADNFLE patients: a PET study.
P2860
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P2860
description
2002 nî lūn-bûn
@nan
2002 թուականին հրատարակուած գիտական յօդուած
@hyw
2002 թվականին հրատարակված գիտական հոդված
@hy
2002年の論文
@ja
2002年論文
@yue
2002年論文
@zh-hant
2002年論文
@zh-hk
2002年論文
@zh-mo
2002年論文
@zh-tw
2002年论文
@wuu
name
How mutations in the nAChRs can cause ADNFLE epilepsy
@ast
How mutations in the nAChRs can cause ADNFLE epilepsy
@en
How mutations in the nAChRs can cause ADNFLE epilepsy
@nl
type
label
How mutations in the nAChRs can cause ADNFLE epilepsy
@ast
How mutations in the nAChRs can cause ADNFLE epilepsy
@en
How mutations in the nAChRs can cause ADNFLE epilepsy
@nl
prefLabel
How mutations in the nAChRs can cause ADNFLE epilepsy
@ast
How mutations in the nAChRs can cause ADNFLE epilepsy
@en
How mutations in the nAChRs can cause ADNFLE epilepsy
@nl
P2093
P2860
P3181
P1433
P1476
How mutations in the nAChRs can cause ADNFLE epilepsy
@en
P2093
A Malafosse
D Bertrand
H Phillips
S Bertrand
P2860
P304
P3181
P356
10.1046/J.1528-1157.43.S.5.16.X
P407
P478
43 Suppl 5
P577
2002-01-01T00:00:00Z