Loss of the potassium channel beta-subunit gene, KCNAB2, is associated with epilepsy in patients with 1p36 deletion syndrome.
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Molecular targets for antiepileptic drug developmentPotassium Channels and Human Epileptic Phenotypes: An Updated OverviewTrafficking mechanisms underlying neuronal voltage-gated ion channel localization at the axon initial segmentHomeostasis or channelopathy? Acquired cell type-specific ion channel changes in temporal lobe epilepsy and their antiepileptic potentialDelineation of mechanisms and regions of dosage imbalance in complex rearrangements of 1p36 leads to a putative gene for regulation of cranial suture closureFunctional coupling between the Kv1.1 channel and aldoketoreductase Kvbeta1Genetic analysis of the mammalian K+ channel beta subunit Kvbeta 2 (Kcnab2)K(+) channelepsy: progress in the neurobiology of potassium channels and epilepsy.An allelic series of mice reveals a role for RERE in the development of multiple organs affected in chromosome 1p36 deletions.Deletion of the mouse homolog of KCNAB2, a gene linked to monosomy 1p36, results in associative memory impairments and amygdala hyperexcitability.The long non-coding RNA NEAT1 is responsive to neuronal activity and is associated with hyperexcitability statesPhysical map of 1p36, placement of breakpoints in monosomy 1p36, and clinical characterization of the syndrome.Comprehensive RNA-Seq expression analysis of sensory ganglia with a focus on ion channels and GPCRs in Trigeminal gangliaCopy number variants and infantile spasms: evidence for abnormalities in ventral forebrain development and pathways of synaptic function.Determinants of voltage-gated potassium channel surface expression and localization in Mammalian neurons.Diverse roles for auxiliary subunits in phosphorylation-dependent regulation of mammalian brain voltage-gated potassium channels.Identification of 1p36 deletion syndrome in patients with facial dysmorphism and developmental delay.Fine mapping of the 1p36 deletion syndrome identifies mutation of PRDM16 as a cause of cardiomyopathy.Similar cation channels mediate protection from cerebellar exitotoxicity by exercise and inheritance.Identification of Susceptible Loci and Enriched Pathways for Bipolar II Disorder Using Genome-Wide Association Studies.When the face says it all: dysmorphology in identifying syndromic causes of epilepsy.1p36 deletion syndrome confirmed by fluorescence in situ hybridization and array-comparative genomic hybridization analysis.Exploring genome-wide DNA methylation patterns in Aicardi syndrome.Sigma-1 Receptor and Neuronal Excitability.Application of array comparative genomic hybridization in 102 patients with epilepsy and additional neurodevelopmental disorders.Clinical utility of exome sequencing in individuals with large homozygous regions detected by chromosomal microarray analysis.Extending the phenotype of monosomy 1p36 syndrome and mapping of a critical region for obesity and hyperphagia
P2860
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P2860
Loss of the potassium channel beta-subunit gene, KCNAB2, is associated with epilepsy in patients with 1p36 deletion syndrome.
description
2001 nî lūn-bûn
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2001年の論文
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2001年学术文章
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2001年学术文章
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2001年学术文章
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2001年学术文章
@zh-hans
2001年学术文章
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2001年學術文章
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name
Loss of the potassium channel ...... s with 1p36 deletion syndrome.
@en
Loss of the potassium channel ...... s with 1p36 deletion syndrome.
@nl
type
label
Loss of the potassium channel ...... s with 1p36 deletion syndrome.
@en
Loss of the potassium channel ...... s with 1p36 deletion syndrome.
@nl
prefLabel
Loss of the potassium channel ...... s with 1p36 deletion syndrome.
@en
Loss of the potassium channel ...... s with 1p36 deletion syndrome.
@nl
P2093
P2860
P1433
P1476
Loss of the potassium channel ...... ts with 1p36 deletion syndrome
@en
P2093
A Chedrawi
A E Anderson
C D Kashork
D E Starkey
D L Burgess
H A Heilstedt
L G Shaffer
S K Shapira
P2860
P304
P356
10.1046/J.1528-1157.2001.08801.X
P577
2001-09-01T00:00:00Z