The clinical and genetic heterogeneity of paroxysmal dyskinesias.
about
The PRRT2 knockout mouse recapitulates the neurological diseases associated with PRRT2 mutations.Molecular Genetics of Epilepsy: A Clinician's Perspective.De Novo Mutations in PDE10A Cause Childhood-Onset Chorea with Bilateral Striatal LesionsPRRT2 mutations lead to neuronal dysfunction and neurodevelopmental defects.Aberrant transcriptional networks in step-wise neurogenesis of paroxysmal kinesigenic dyskinesia-induced pluripotent stem cells.Expanding the genetic spectrum of paroxysmal dyskinesias.Recurrent Ataxia in Children and Adolescents.The epileptic and nonepileptic spectrum of paroxysmal dyskinesias: Channelopathies, synaptopathies, and transportopathies.Genetics of Migraine: Insights into the Molecular Basis of Migraine Disorders.PRRT2, a network stability gene.Familial Paroxysmal Kinesigenic Dyskinesia is associated with mutations in the KCNA1 gene.PRRT2 mutations in a cohort of Chinese families with paroxysmal kinesigenic dyskinesia and genotype-phenotype correlation reanalysis in literatures.The PNKD gene is associated with Tourette Disorder or Tic disorder in a multiplex family.Paroxysmal exercise-induced dystonia within the phenotypic spectrum of ECHS1 deficiency.PRRT2 Regulates Synaptic Fusion by Directly Modulating SNARE Complex Assembly.Dominant-negative mutation p.Arg324Thr in KCNA1 impairs Kv1.1 channel function in episodic ataxia.PRRT2 controls neuronal excitability by negatively modulating Na+ channel 1.2/1.6 activity.Dystonia.
P2860
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P2860
The clinical and genetic heterogeneity of paroxysmal dyskinesias.
description
2015 nî lūn-bûn
@nan
2015 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2015 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
2015年の論文
@ja
2015年論文
@yue
2015年論文
@zh-hant
2015年論文
@zh-hk
2015年論文
@zh-mo
2015年論文
@zh-tw
2015年论文
@wuu
name
The clinical and genetic heterogeneity of paroxysmal dyskinesias
@nl
The clinical and genetic heterogeneity of paroxysmal dyskinesias.
@ast
The clinical and genetic heterogeneity of paroxysmal dyskinesias.
@en
type
label
The clinical and genetic heterogeneity of paroxysmal dyskinesias
@nl
The clinical and genetic heterogeneity of paroxysmal dyskinesias.
@ast
The clinical and genetic heterogeneity of paroxysmal dyskinesias.
@en
prefLabel
The clinical and genetic heterogeneity of paroxysmal dyskinesias
@nl
The clinical and genetic heterogeneity of paroxysmal dyskinesias.
@ast
The clinical and genetic heterogeneity of paroxysmal dyskinesias.
@en
P2093
P2860
P50
P921
P3181
P356
P1433
P1476
The clinical and genetic heterogeneity of paroxysmal dyskinesias.
@en
P2093
Alice R Gardiner
Esther Meyer
Fatima Jaffer
Georgia Xiromerisiou
Henry Houlden
Manju A Kurian
Matthew Walker
Mike Hanna
Paul Jarman
Robyn Labrum
P2860
P304
P3181
P356
10.1093/BRAIN/AWV310
P407
P50
P5008
P577
2015-11-23T00:00:00Z
2015-12-01T00:00:00Z