AI Article Synopsis
- A patient diagnosed with atypical infantile convulsions at age one later developed unspecific myopathy by age three.
- At 25, the patient was referred to a neuromuscular clinic for myopathy but was found to actually have adult-onset atypical infantile convulsions and paroxysmal choreoathetosis.
- The changes in diagnosis were linked to a genetic mutation (c.970G>A, p. (Gly324Arg)) in the PRRT2 gene.
Article 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.
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