Expanding the phenotype of potassium channelopathy: severe neuromyotonia and skeletal deformities without prominent Episodic Ataxia

Expanding the phenotype of potassium channelopathy: severe neuromyotonia and skeletal deformities without prominent Episodic Ataxia

Item
http://www.wikidata.org/entity/Q28280670
Functional analysis of a novel potassium channel (KCNA1) mutation in hereditary myokymiaThe clinical and genetic heterogeneity of paroxysmal dyskinesias.New insights into the pathogenesis and therapeutics of episodic ataxia type 1Clinical and experimental studies of potentially pathogenic brain-directed autoantibodies: current knowledge and future directionsKv1.1 knock-in ataxic mice exhibit spontaneous myokymic activity exacerbated by fatigue, ischemia and low temperatureNerve excitability studies characterize Kv1.1 fast potassium channel dysfunction in patients with episodic ataxia type 1.Novel phenotype associated with a mutation in the KCNA1(Kv1.1) geneComprehensive RNA-Seq expression analysis of sensory ganglia with a focus on ion channels and GPCRs in Trigeminal gangliaOxaliplatin induces hyperexcitability at motor and autonomic neuromuscular junctions through effects on voltage-gated sodium channels.Episodic ataxia type 1: a neuronal potassium channelopathy.Clinical heterogeneity associated with KCNA1 mutations include cataplexy and nonataxic presentationsTreatment of neuromuscular channelopathies: current concepts and future prospectsEpisodic ataxia type 1: clinical characterization, quality of life and genotype-phenotype correlation.Isaacs syndrome: A review.Episodic ataxia type 1 mutations differentially affect neuronal excitability and transmitter release.Spontaneous seizures in Kcna1-null mice lacking voltage-gated Kv1.1 channels activate Fos expression in select limbic circuits.Scn2a deletion improves survival and brain-heart dynamics in the Kcna1-null mouse model of sudden unexpected death in epilepsy (SUDEP).
P2860

Expanding the phenotype of potassium channelopathy: severe neuromyotonia and skeletal deformities without prominent Episodic Ataxia

Item
http://www.wikidata.org/entity/Q28280670
description
2004 nî lūn-bûn
@nan
2004 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2004 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
2004年の論文
@ja
2004年論文
@yue
2004年論文
@zh-hant
2004年論文
@zh-hk
2004年論文
@zh-mo
2004年論文
@zh-tw
2004年论文
@wuu
name
Expanding the phenotype of pot ...... hout prominent Episodic Ataxia
@ast
Expanding the phenotype of pot ...... hout prominent Episodic Ataxia
@en
Expanding the phenotype of pot ...... hout prominent Episodic Ataxia
@nl
type
label
Expanding the phenotype of pot ...... hout prominent Episodic Ataxia
@ast
Expanding the phenotype of pot ...... hout prominent Episodic Ataxia
@en
Expanding the phenotype of pot ...... hout prominent Episodic Ataxia
@nl
prefLabel
Expanding the phenotype of pot ...... hout prominent Episodic Ataxia
@ast
Expanding the phenotype of pot ...... hout prominent Episodic Ataxia
@en
Expanding the phenotype of pot ...... hout prominent Episodic Ataxia
@nl
P1433
P1476
P2093
P304
P31
P356
P407
P433
P478
P50
P577
P698
P356
P1433
P1476
Expanding the phenotype of pot ...... hout prominent Episodic Ataxia
@en
P2093
P304
P31
P356
P407
P433
P478
P50
P577
P698