The evolving spectrum of PRRT2-associated paroxysmal diseases.
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The PRRT2 knockout mouse recapitulates the neurological diseases associated with PRRT2 mutations.The Genetics of Benign Paroxysmal Torticollis of Infancy: Is There an Association With Mutations in the CACNA1A Gene?Mutation Analysis of MR-1, SLC2A1, and CLCN1 in 28 PRRT2-negative Paroxysmal Kinesigenic Dyskinesia Patients.Gene Panel Testing in Epileptic Encephalopathies and Familial Epilepsies.Aberrant transcriptional networks in step-wise neurogenesis of paroxysmal kinesigenic dyskinesia-induced pluripotent stem cells.Depression, anxiety, and quality of life in paroxysmal kinesigenic dyskinesia patients.The epileptic and nonepileptic spectrum of paroxysmal dyskinesias: Channelopathies, synaptopathies, and transportopathies.Genetics of Migraine: Insights into the Molecular Basis of Migraine Disorders.PRRT2 Is a Key Component of the Ca(2+)-Dependent Neurotransmitter Release Machinery.Headache and Epilepsy.The Role of PRRT2 in Synaptic Transmission May Not Be So Benign.PRRT2, a network stability gene.A novel PRRT2 pathogenic variant in a family with Paroxysmal Kinesigenic Dyskinesia and Benign Familial Infantile Seizures.Dominant KCNA2 mutation causes episodic ataxia and pharmacoresponsive epilepsy.PRRT2 mutations in a cohort of Chinese families with paroxysmal kinesigenic dyskinesia and genotype-phenotype correlation reanalysis in literatures.PRRT2 deficiency induces paroxysmal kinesigenic dyskinesia by regulating synaptic transmission in cerebellum.The 16p11.2 homologs fam57ba and doc2a generate certain brain and body phenotypes.Benign Infantile Epilepsy Mimicking Reflex Anoxic Seizures in an Infant with PRRT2 Gene Mutation.PRRT2 Regulates Synaptic Fusion by Directly Modulating SNARE Complex Assembly.PRRT2-dependent dyskinesia: cerebellar, paroxysmal and persistent.Paroxysmal kinesigenic dyskinesia-like phenotype in multiple sclerosis.PRRT2 controls neuronal excitability by negatively modulating Na+ channel 1.2/1.6 activity.De novo mutations of the ATP6V1A gene cause developmental encephalopathy with epilepsy.SYT1-associated neurodevelopmental disorder: a case series
P2860
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P2860
The evolving spectrum of PRRT2-associated paroxysmal diseases.
description
2015 nî lūn-bûn
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2015年の論文
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2015年学术文章
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2015年学术文章
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2015年学术文章
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2015年学术文章
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2015年学术文章
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name
The evolving spectrum of PRRT2-associated paroxysmal diseases.
@en
type
label
The evolving spectrum of PRRT2-associated paroxysmal diseases.
@en
prefLabel
The evolving spectrum of PRRT2-associated paroxysmal diseases.
@en
P2860
P356
P1433
P1476
The evolving spectrum of PRRT2-associated paroxysmal diseases.
@en
P2093
Ana Westenberger
Darius Ebrahimi-Fakhari
P2860
P304
P356
10.1093/BRAIN/AWV317
P407
P577
2015-11-23T00:00:00Z