Homozygous PRRT2 mutation causing a spectrum of paroxysmal neurological symptoms responsive to sodium channel blockers

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17 Oct 2026 0 comments

A 17-year-old woman attended the adult outpatient clinic with recent focal seizures, lasting approximately 30s, occurring several times a week. She experienced an odd sensation that she recognised but could not describe, followed by loss of consciousness. Her mother reported she would become blank and stare with swallowing movements. Occasionally, she would turn her head to the left, pluck at her clothes and make a low-pitched groan. These seizures occurred after carbamazepine (taken since early childhood) was weaned. She also reported intermittent tingling sensations, poor memory and hemiplegic migraine (HM). A clinical diagnosis of focal epilepsy, likely temporal, was made. A sleep electroencephalogram (EEG) showed several runs of bitemporal or independent epileptiform discharges, mainly right frontotemporal.

Aged 2 months, she had her first generalised tonic-clonic seizure (GTCS) and was admitted with recurrent seizures, treated with phenobarbital, followed by carbamazepine and became seizure-free. At nearly 4 years of age,...