Abstract

This is a case report of a patient, who was diagnosed with epilepsy (atypical infantile convulsions) at the age of one year and unspecific myopathy at the age of three years. At the age of 25 years, the patient was referred to a neuromuscular clinic due to myopathy, but the diagnose was changed to atypical infantile convulsions with seizures in adulthood and paroxysmal choreoathetosis due to a pathogenic variant c.970G>A, p. (Gly324Arg) in the PRRT2 gene.

Bidragets oversatte titelParoxystic dyskinesia
OriginalsprogDansk
TidsskriftUgeskrift for Laeger
Vol/bind183
Udgave nummer29
ISSN0041-5782
StatusUdgivet - 19 jul. 2021

Emneord

  • Adult
  • Dyskinesias/etiology
  • Epilepsy, Benign Neonatal
  • Humans
  • Infant
  • Membrane Proteins/genetics
  • Mutation
  • Nerve Tissue Proteins/genetics
  • Pedigree

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