Unraveling monogenic channelopathies and their implications for complex polygenic disease
about
Channelopathy pathogenesis in autism spectrum disordersRole of voltage-gated calcium channels in epilepsy.PP2A-Bgamma subunit and KCNQ2 K+ channels in bipolar disorder.KCNQ1 p.L353L affects splicing and modifies the phenotype in a founder population with long QT syndrome type 1.Novel mutation confirms seizure locus SCN1A is also familial hemiplegic migraine locus FHM3Mechanisms of disease: Genetic mechanisms of atrial fibrillation.Channelopathies in idiopathic epilepsy.A polygenic heterogeneity model for common epilepsies with complex genetics.A review of potassium channels in bipolar disorder.Chipping away at the common epilepsies with complex genetics: the 15q13.3 microdeletion shows the way.Channels active in the excitability of nerves and skeletal muscles across the neuromuscular junction: basic function and pathophysiology.Forty years from markers to genes.The Role of Calcium Channels in Epilepsy.Determination of the Relative Cell Surface and Total Expression of Recombinant Ion Channels Using Flow Cytometry.Exome sequencing of ion channel genes reveals complex profiles confounding personal risk assessment in epilepsy.Mechanisms by which a CACNA1H mutation in epilepsy patients increases seizure susceptibility.Febrile convulsions and genetic susceptibility: role of the neuronal nicotinic acetylcholine receptor alpha 4 subunit.LQTS in Northern BC: homozygosity for KCNQ1 V205M presents with a more severe cardiac phenotype but with minimal impact on auditory function.Long QT syndrome.A KCNQ1 V205M missense mutation causes a high rate of long QT syndrome in a First Nations community of northern British Columbia: a community-based approach to understanding the impact
P2860
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P2860
Unraveling monogenic channelopathies and their implications for complex polygenic disease
description
2003 nî lūn-bûn
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2003 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
2003 թվականի մարտին հրատարակված գիտական հոդված
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2003年の論文
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2003年論文
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2003年論文
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2003年論文
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2003年論文
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2003年論文
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2003年论文
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name
Unraveling monogenic channelopathies and their implications for complex polygenic disease
@ast
Unraveling monogenic channelopathies and their implications for complex polygenic disease
@en
type
label
Unraveling monogenic channelopathies and their implications for complex polygenic disease
@ast
Unraveling monogenic channelopathies and their implications for complex polygenic disease
@en
prefLabel
Unraveling monogenic channelopathies and their implications for complex polygenic disease
@ast
Unraveling monogenic channelopathies and their implications for complex polygenic disease
@en
P2860
P356
P1476
Unraveling monogenic channelopathies and their implications for complex polygenic disease
@en
P2093
J Jay Gargus
P2860
P304
P356
10.1086/374317
P407
P577
2003-03-07T00:00:00Z