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  • Links
  • Publisher Full Text
  • Authors
  • Schmidt A
  • Kumar KR
  • Redyk K
  • Grünewald A
  • Leben M
  • Münchau A
  • Sue CM
  • Hagenah J
  • MESH
  • Dystonia
  • Electroencephalography
  • Epilepsy, Benign Neonatal
  • Family Health
  • Female
  • Humans
  • Male
  • Membrane Proteins
  • Mutation
  • Nerve Tissue Proteins

Unbound MEDLINE

Two faces of the same coin: benign familial infantile seizures and paroxysmal kinesigenic dyskinesia caused by PRRT2 mutations.

Links

  • Publisher Full Text
  • Authors

    Schmidt A, Kumar KR, Redyk K, Grünewald A, Leben M, Münchau A, Sue CM, Hagenah J, Hartmann H, Lohmann K, Christen HJ, Klein C

    Source

    Archives of neurology 69:5 2012 May pg 668-70

    MeSH

    Dystonia
    Electroencephalography
    Epilepsy, Benign Neonatal
    Family Health
    Female
    Humans
    Male
    Membrane Proteins
    Mutation
    Nerve Tissue Proteins

    Pub Type(s)

    Letter

    Language

    eng

    PubMed ID

    22782515

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    • Paroxysmal kinesigenic dyskinesia: cortical or non-cortical origin.
    • PRRT2 phenotypic spectrum includes sporadic and fever-related infantile seizures.
    • Genetic testing in benign familial epilepsies of the first year of life: clinical and diagnostic significance.
    • Clinical features of childhood-onset paroxysmal kinesigenic dyskinesia with PRRT2 gene mutations.
    • PRRT2 mutations in familial infantile seizures, paroxysmal dyskinesia, and hemiplegic migraine.
    • Paroxysmal disorders associated with PRRT2 mutations shake up expectations on ion channel genes.
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