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Genetics in dystonia: an updateA Novel Topology of Proline-rich Transmembrane Protein 2 (PRRT2): HINTS FOR AN INTRACELLULAR FUNCTION AT THE SYNAPSE.Novel loss-of-function PRRT2 mutation causes paroxysmal kinesigenic dyskinesia in a Han Chinese familyPRRT2 Mutant Leads to Dysfunction of Glutamate Signaling.The Genetics of Benign Paroxysmal Torticollis of Infancy: Is There an Association With Mutations in the CACNA1A Gene?Genetic forms of epilepsies and other paroxysmal disordersPRRT2 mutations lead to neuronal dysfunction and neurodevelopmental defects.Aberrant transcriptional networks in step-wise neurogenesis of paroxysmal kinesigenic dyskinesia-induced pluripotent stem cells.A mononucleotide repeat in PRRT2 is an important, frequent target of mismatch repair deficiency in cancer.IFITMs restrict the replication of multiple pathogenic virusesOur evolving understanding of migraine with aura.Diagnosis and treatment of chorea syndromes.The genetics of the epilepsies.Intermittent head drops: the differential spectrum.Depression, anxiety, and quality of life in paroxysmal kinesigenic dyskinesia patients.Aura and Other Neurologic Dysfunction in or with Migraine.Paroxysmal kinesigenic dyskinesia in a patient with a PRRT2 mutation and centrotemporal spike discharges on electroencephalogram: case report of a 10-year-old girl.Proline-rich Transmembrane Protein 2 Gene Mutation in a Sporadic Paroxysmal Kinesigenic Dyskinesia.Evidence for linkage of migraine in Rolandic epilepsy to known 1q23 FHM2 and novel 17q22 genetic loci.Familial Paroxysmal Kinesigenic Dyskinesia is associated with mutations in the KCNA1 gene.PRRT2 deficiency induces paroxysmal kinesigenic dyskinesia by regulating synaptic transmission in cerebellum.Severe phenotypic spectrum of biallelic mutations in PRRT2 gene.Dominant-negative mutation p.Arg324Thr in KCNA1 impairs Kv1.1 channel function in episodic ataxia.Familial hemiplegic migraine: A model for the genetic studies of migraine
P2860
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P2860
description
article científic
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article scientifique
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articol științific
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articolo scientifico
@it
artigo científico
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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
PRRT2 mutations and paroxysmal disorders.
@en
type
label
PRRT2 mutations and paroxysmal disorders.
@en
prefLabel
PRRT2 mutations and paroxysmal disorders.
@en
P2093
P2860
P356
P1476
PRRT2 mutations and paroxysmal disorders
@en
P2093
P2860
P304
P356
10.1111/ENE.12104
P577
2013-02-09T00:00:00Z