Benign infantile convulsion as a diagnostic clue of paroxysmal kinesigenic dyskinesia: a case series.

ABSTRACT:

Introduction

Paroxysmal kinesigenic dyskinesia is characterized by sudden attacks of involuntary movements. It is often misdiagnosed clinically as psychogenic illness, which distresses the patients to a great extent. A correct diagnosis will improve the quality of life in patients with paroxysmal kinesigenic dyskinesia because treatment with low doses of anticonvulsants is effective for eliminating the clinical manifestations. Paroxysmal kinesigenic dyskinesia can occur independently of or concurrently with benign infantile convulsion. Identification of PRRT2 as the causative gene of benign infantile convulsion and paroxysmal kinesigenic dyskinesia allows genetic confirmation of the clinical diagnosis.

Case presentation

We describe the clinical features of a Japanese family

SUBMITTER: Matsumoto N 

PROVIDER: S-EPMC4077686 | biostudies-literature | 2014 Jun

REPOSITORIES: biostudies-literature