Abstract:

Objective To summarize the clinical phenotype characteristics of the PRRT2 gene mutation family and analyze the treatment effect in order to provide evidence for the clinical diagnosis and treatment. Methods Clinical data of PRRT2⁃positive patients and their family members who received treatment in our hospital from November 2018 to February 2021 were selected and the therapeutic effect was analyzed. Results A total of 3 patients showed benign familial infantile epilepsy（BFIE） in infancy and paroxysmal kinesigenic dyskinesia （PKD）in adolescence. Four patients were diagnosed with BFIE in infancy，and among them，three are still in early childhood with uncertain PKD phenotype；one adult female patient was only diagnosed with PKD. Six patients with BFIE were not treated and improved within 2 years of age. The symptoms of the 2 patients could be relieved by low⁃dose of oxcarbazepine. The symptoms of the 3 patients with PKD could be relieved by low⁃dose of oxcarbaze⁃ pine. Conclusions The most common clinical phenotypes in families with PRRT2 gene mutations are BFIE and PKD. Some affected populations have BFIE phenotypes in infancy，and PKD phenotypes may appear in adoles⁃ cence. Lower dosage of oxcarbazepine is effective in treatment，while levetiracetam has poor therapeutic effects and may even worsen the attack.

Key words:

PRRT2 gene, mutation, BFIE, PKD, oxcarbazepine