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Publication Detail
Mutations in the novel protein PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions.
  • Publication Type:
    Journal article
  • Publication Sub Type:
    JOURNAL ARTICLE
  • Authors:
    Lee HY, Huang Y, Bruneau N, Roll P, Roberson ED, Hermann M, Quinn E, Maas J, Edwards R, Ashizawa T, Baykan B, Bhatia K, Bressman S, Bruno MK, Brunt ER, Caraballo R, Echenne B, Fejerman N, Frucht S, Gurnett CA, Hirsch E, Houlden H, Jankovic J, Lee WL, Lynch DR, Mohamed S, Müller U, Nespeca MP, Renner D, Rochette J, Rudolf G, Saiki S, Soong BW, Swoboda KJ, Tucker S, Wood N, Hanna M, Bowcock A, Szepetowski P, Fu YH, Ptáček LJ
  • Publication date:
    26/01/2012
  • Pagination:
    2, 12
  • Journal:
    Cell Rep
  • Volume:
    1
  • Issue:
    1
  • Language:
    ENG
  • Notes:
    PMCID: PMC3334308
Abstract
Paroxysmal Kinesigenic Dyskinesia with Infantile Convulsions (PKD/IC) is an episodic movement disorder with autosomal dominant inheritance and high penetrance, but the causative gene is unknown. We have now identified four truncating mutations involving the PRRT2 gene in the vast majority (24/25) of well characterized families with PKD/IC. PRRT2 truncating mutations were also detected in 28 of 78 additional families. The PRRT2 gene encodes a proline-rich transmembrane protein of unknown function that has been reported to interact with the t-SNARE, SNAP25. PRRT2 localizes to axons but not to dendritic processes in primary neuronal culture and mutants associated with PKD/IC lead to dramatically reduced PRRT2 protein levels leading ultimately to neuronal hyperexcitability that manifests in vivo as PKD/IC.
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Department of Neuromuscular Diseases
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Department of Neuromuscular Diseases
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