Table 5.

PRRT2-Related Disorder: Treatment of Manifestations

Manifestation/ConcernTreatmentConsiderations/Other
Seizures Sodium channel blockers (carbamazepine or oxcarbazepine)
  • Seizures in SeLIE most often also respond to other first-line ASMs (incl levetiracetam). ASMs should be chosen based on best risk vs benefit profile.
  • A seizure rescue plan for prolonged seizures is recommended.
Paroxysmal dyskinesias Sodium channel blockers (carbamazepine or oxcarbazepine)Doses of 100 mg/day or less have been effective in most persons w/PRRT2-related PKD.
Hemiplegic events Sodium channel blockers (carbamazepine or oxcarbazepine)
  • Anecdotal evidence only
  • Acetazolamide or medications for typical migraine w/aura can be considered.

ASMs = anti-seizure medications; PKD = paroxysmal kinesigenic dyskinesia; SeLIE = self-limited (familial) infantile epilepsy

From: PRRT2-Related Disorder

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