[Paroxystic dyskinesia]

Sonja Holm-Yildiz1, Tina Dysgaard Jeppesen

  • 1Sonja.desiree.holm-yildiz@regionh.dk.

Ugeskrift for Laeger
|August 6, 2021
PubMed

Insights

A genetic variant in the PRRT2 gene caused a patient's epilepsy and choreoathetosis. Initially diagnosed with infantile convulsions and myopathy, the condition evolved, highlighting PRRT2's role in neurological disorders.

Area of Science:

  • Neurology
  • Genetics
  • Case Reports

Background:

  • A patient presented with early-onset epilepsy (atypical infantile convulsions) and later developed unspecific myopathy.
  • Diagnostic re-evaluation at age 25 shifted focus from myopathy to neurological symptoms.

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