Congenital ataxia and hemiplegic migraine with cerebral edema associated with a novel gain of function mutation in the calcium channel CACNA1A
about
A Single Amino Acid Deletion (ΔF1502) in the S6 Segment of CaV2.1 Domain III Associated with Congenital Ataxia Increases Channel Activity and Promotes Ca2+ InfluxMeta-Analysis of Public Microarray Datasets Reveals Voltage-Gated Calcium Gene Signatures in Clinical Cancer Patients.Genetic Evidence for Possible Involvement of the Calcium Channel Gene CACNA1A in Autism Pathogenesis in Chinese Han Population.The expanding spectrum of neurological phenotypes in children with ATP1A3 mutations, Alternating Hemiplegia of Childhood, Rapid-onset Dystonia-Parkinsonism, CAPOS and beyond.Combined early treatment in hemiplegic attacks related to CACNA1A encephalopathy with brain oedema: Blocking the cascade?Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially.Benign paroxysmal torticollis of infancy: An underdiagnosed condition.Stroke-Like Episodes and Cerebellar Syndrome in Phosphomannomutase Deficiency (PMM2-CDG): Evidence for Hypoglycosylation-Driven Channelopathy.Genomic analysis identifies masqueraders of full-term cerebral palsy.
P2860
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P2860
Congenital ataxia and hemiplegic migraine with cerebral edema associated with a novel gain of function mutation in the calcium channel CACNA1A
description
2014 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
2014 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
artículu científicu espublizáu en 2014
@ast
im Juli 2014 veröffentlichter wissenschaftlicher Artikel
@de
scientific journal article
@en
vedecký článok (publikovaný 2014/07/15)
@sk
vědecký článek publikovaný v roce 2014
@cs
wetenschappelijk artikel (gepubliceerd op 2014/07/15)
@nl
наукова стаття, опублікована в липні 2014
@uk
مقالة علمية (نشرت في 15-7-2014)
@ar
name
Congenital ataxia and hemipleg ...... in the calcium channel CACNA1A
@ast
Congenital ataxia and hemipleg ...... in the calcium channel CACNA1A
@en
Congenital ataxia and hemipleg ...... in the calcium channel CACNA1A
@nl
type
label
Congenital ataxia and hemipleg ...... in the calcium channel CACNA1A
@ast
Congenital ataxia and hemipleg ...... in the calcium channel CACNA1A
@en
Congenital ataxia and hemipleg ...... in the calcium channel CACNA1A
@nl
prefLabel
Congenital ataxia and hemipleg ...... in the calcium channel CACNA1A
@ast
Congenital ataxia and hemipleg ...... in the calcium channel CACNA1A
@en
Congenital ataxia and hemipleg ...... in the calcium channel CACNA1A
@nl
P2093
P921
P1476
Congenital ataxia and hemipleg ...... in the calcium channel CACNA1A
@en
P2093
Christine Kallay Zetchi
Eliane Roulet-Perez
Ivan Gautschi
Lama Al-Qusairi
Laureane Mittaz-Crettol
Laurent Schild
Miguel Xavier Van Bemmelen
Nuria García Segarra
Philippe Maeder
P356
10.1016/J.JNS.2014.04.027
P50
P577
2014-07-15T00:00:00Z