Abstract
Background:
Paroxysmal kinesigenic dyskinesia (PKD) is a rare condition associated with heterozygous mutations in the proline-rich transmembrane protein 2 (PRRT2) gene.
Phenomenology shown:
In this article we illustrate the phenomenology of PKD in a male previously misdiagnosed with Tourette's syndrome.
Educational value:
Regardless of the underlying phenotype, PKD is highly responsive to some antiepileptic drugs.
Keywords:
PRRT2; Paroxysmal kinesigenic dyskinesia; carbamazepine.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
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Video-Audio Media
MeSH terms
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Adult
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Anticonvulsants / therapeutic use
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Carbamazepine / therapeutic use
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Diagnosis, Differential
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Diagnostic Errors
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Dystonia / diagnosis*
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Dystonia / drug therapy
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Dystonia / genetics
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Dystonia / physiopathology
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Humans
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Male
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Membrane Proteins / genetics
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Nerve Tissue Proteins / genetics
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Phenotype
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Tourette Syndrome / diagnosis
Substances
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Anticonvulsants
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Membrane Proteins
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Nerve Tissue Proteins
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PRRT2 protein, human
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Carbamazepine
Supplementary concepts
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Familial paroxysmal dystonia