Pure haploinsufficiency for Dravet syndrome Na(V)1.1 (SCN1A) sodium channel truncating mutations.
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Trafficking mechanisms underlying neuronal voltage-gated ion channel localization at the axon initial segmentGenetic epilepsy syndromes without structural brain abnormalities: clinical features and experimental modelsThe genetic relationship between epilepsy and hemiplegic migraineRare variants of small effect size in neuronal excitability genes influence clinical outcome in Japanese cases of SCN1A truncation-positive Dravet syndrome.A novel trafficking-defective HCN4 mutation is associated with early-onset atrial fibrillation.The β1-subunit of Na(v)1.5 cardiac sodium channel is required for a dominant negative effect through α-α interaction.Analysis of mutations in 7 genes associated with neuronal excitability and synaptic transmission in a cohort of children with non-syndromic infantile epileptic encephalopathy.Specific deletion of NaV1.1 sodium channels in inhibitory interneurons causes seizures and premature death in a mouse model of Dravet syndrome.A human Dravet syndrome model from patient induced pluripotent stem cells.2014 Epilepsy Benchmarks Area II: Prevent Epilepsy and Its Progression.Upregulation of Haploinsufficient Gene Expression in the Brain by Targeting a Long Non-coding RNA Improves Seizure Phenotype in a Model of Dravet Syndrome.Nonfunctional NaV1.1 familial hemiplegic migraine mutant transformed into gain of function by partial rescue of folding defectsStrain- and age-dependent hippocampal neuron sodium currents correlate with epilepsy severity in Dravet syndrome mice.The SCN1A gene variants and epileptic encephalopathies.SCN8A mutations in Chinese children with early onset epilepsy and intellectual disability.Pharmacogenomics in epilepsy.From Acupuncture to Interaction between δ-Opioid Receptors and Na (+) Channels: A Potential Pathway to Inhibit Epileptic Hyperexcitability.[Epilepsy-new diagnostic tools, old drugs? : Therapeutic consequences of epilepsy genetics].Hippocampal hyperexcitability and specific epileptiform activity in a mouse model of Dravet syndrome.Preclinical Animal Models for Dravet Syndrome: Seizure Phenotypes, Comorbidities and Drug Screening.
P2860
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P2860
Pure haploinsufficiency for Dravet syndrome Na(V)1.1 (SCN1A) sodium channel truncating mutations.
description
2011 nî lūn-bûn
@nan
2011年の論文
@ja
2011年学术文章
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2011年学术文章
@zh-cn
2011年学术文章
@zh-hans
2011年学术文章
@zh-my
2011年学术文章
@zh-sg
2011年學術文章
@yue
2011年學術文章
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2011年學術文章
@zh-hant
name
Pure haploinsufficiency for Dravet syndrome Na
@nl
Pure haploinsufficiency for Dr ...... channel truncating mutations.
@en
type
label
Pure haploinsufficiency for Dravet syndrome Na
@nl
Pure haploinsufficiency for Dr ...... channel truncating mutations.
@en
prefLabel
Pure haploinsufficiency for Dravet syndrome Na
@nl
Pure haploinsufficiency for Dr ...... channel truncating mutations.
@en
P2093
P2860
P1433
P1476
Pure haploinsufficiency for Dr ...... channel truncating mutations.
@en
P2093
Emanuele Schiavon
Giulia Bechi
Raffaella Rusconi
Silvana Franceschetti
P2860
P304
P356
10.1111/J.1528-1167.2011.03346.X
P577
2011-12-09T00:00:00Z