Role of PRRT2 in common paroxysmal neurological disorders: a gene with remarkable pleiotropy.
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A Novel Topology of Proline-rich Transmembrane Protein 2 (PRRT2): HINTS FOR AN INTRACELLULAR FUNCTION AT THE SYNAPSE.The PRRT2 knockout mouse recapitulates the neurological diseases associated with PRRT2 mutations.Five cases of paroxysmal kinesigenic dyskinesia by genetic diagnosisGene expression patterns in the hippocampus during the development and aging of Glud1 (Glutamate Dehydrogenase 1) transgenic and wild type micePRRT2 Mutant Leads to Dysfunction of Glutamate Signaling.Urine-derived induced pluripotent stem cells as a modeling tool for paroxysmal kinesigenic dyskinesia.Intronic PRRT2 mutation generates novel splice acceptor site and causes paroxysmal kinesigenic dyskinesia with infantile convulsions (PKD/IC) in a three generation familyMutation Analysis of MR-1, SLC2A1, and CLCN1 in 28 PRRT2-negative Paroxysmal Kinesigenic Dyskinesia Patients.Recent advances in the genetics of dystonia.PRRT2 mutations lead to neuronal dysfunction and neurodevelopmental defects.Aberrant transcriptional networks in step-wise neurogenesis of paroxysmal kinesigenic dyskinesia-induced pluripotent stem cells.Genomic biomarkers of SUDEP in brain and heart.Epilepsy: old syndromes, new genes.Hemiplegia and headache: a review of hemiplegia in headache disorders.Depression, anxiety, and quality of life in paroxysmal kinesigenic dyskinesia patients.The contribution of next generation sequencing to epilepsy genetics.The evolving spectrum of PRRT2-associated paroxysmal diseases.KCNT1 mutations in seizure disorders: the phenotypic spectrum and functional effects.Orbitofrontal Neuroadaptations and Cross-Species Synaptic Biomarkers in Heavy-Drinking Macaques.Genetic Testing in Pediatric Epilepsy.Mutation screening of the PRRT2 gene for benign epilepsy with centrotemporal spikes in Chinese mainland population.Paroxysmal kinesigenic dyskinesia and myotonia congenita in the same family: coexistence of a PRRT2 mutation and two CLCN1 mutationsParoxysmal kinesigenic dyskinesia caused by 16p11.2 microdeletion.Familial Paroxysmal Kinesigenic Dyskinesia is associated with mutations in the KCNA1 gene.Reduced Penetrance of PRRT2 Mutation in a Chinese Family With Infantile Convulsion and Choreoathetosis Syndrome.Benign Infantile Epilepsy Mimicking Reflex Anoxic Seizures in an Infant with PRRT2 Gene Mutation.Paroxysmal kinesigenic dyskinesia-like phenotype in multiple sclerosis.PRRT2 controls neuronal excitability by negatively modulating Na+ channel 1.2/1.6 activity.Aberrant Sensory Gating of the Primary Somatosensory Cortex Contributes to the Motor Circuit Dysfunction in Paroxysmal Kinesigenic Dyskinesia
P2860
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P2860
Role of PRRT2 in common paroxysmal neurological disorders: a gene with remarkable pleiotropy.
description
article científic
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article scientifique
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articol științific
@ro
articolo scientifico
@it
artigo científico
@gl
artigo científico
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artigo científico
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artikel ilmiah
@id
artikull shkencor
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artículo científico
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name
Role of PRRT2 in common paroxy ...... ne with remarkable pleiotropy.
@en
type
label
Role of PRRT2 in common paroxy ...... ne with remarkable pleiotropy.
@en
prefLabel
Role of PRRT2 in common paroxy ...... ne with remarkable pleiotropy.
@en
P1476
Role of PRRT2 in common paroxy ...... ene with remarkable pleiotropy
@en
P2093
Leanne M Dibbens
P304
P356
10.1136/JMEDGENET-2012-101406
P407
P577
2013-01-23T00:00:00Z