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Paroxysmal Dyskinesias in a PRRT2 Mutation Carrier.
Marano, Massimo; Motolese, Francesco; Consoli, Federica; De Luca, Alessandro; Di Lazzaro, Vincenzo.
Affiliation
  • Marano M; Neurology, Neurophysiology and Neurobiology Unit, Department of medicine, Campus Bio-Medico of Rome University, Rome, IT.
  • Motolese F; Neurology, Neurophysiology and Neurobiology Unit, Department of medicine, Campus Bio-Medico of Rome University, Rome, IT.
  • Consoli F; Fondazione IRCCS Casa Sollievo della Sofferenza, Laboratorio di Genetica Molecolare, San Giovanni Rotondo (FG), IT.
  • De Luca A; Fondazione IRCCS Casa Sollievo della Sofferenza, Laboratorio di Genetica Molecolare, San Giovanni Rotondo (FG), IT.
  • Di Lazzaro V; Neurology, Neurophysiology and Neurobiology Unit, Department of medicine, Campus Bio-Medico of Rome University, Rome, IT.
Tremor Other Hyperkinet Mov (N Y) ; 8: 616, 2018.
Article in En | MEDLINE | ID: mdl-30622840
Background: Paroxysmal movement disorders are rare and heterogeneous genetic conditions characterized by the recurrence of transient involuntary movements. Phenomenology Shown: The phenomenology of a paroxysmal kinesigenic dyskinesia in a young professional athlete. Educational Value: Providing basic clinical and genetic elements for the early recognition and diagnosis of a rare movement disorder.
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Chorea / Heterozygote / Membrane Proteins / Mutation / Nerve Tissue Proteins Type of study: Diagnostic_studies / Qualitative_research Limits: Adult / Humans / Male Language: En Journal: Tremor Other Hyperkinet Mov (N Y) Year: 2018 Document type: Article Country of publication: Reino Unido
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Chorea / Heterozygote / Membrane Proteins / Mutation / Nerve Tissue Proteins Type of study: Diagnostic_studies / Qualitative_research Limits: Adult / Humans / Male Language: En Journal: Tremor Other Hyperkinet Mov (N Y) Year: 2018 Document type: Article Country of publication: Reino Unido