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AimThe aim of the study was to determine clinical and genetic characteristics of Japanese patients with hyperekplexia.
MethodClinical courses, responses to antiepileptic drugs, outcomes, and genetic testing were investigated in 17 Japanese patients (nine males, eight females, median age 1y, range birth–45y) with hyperekplexia.
ResultsIn all patients, muscle stiffness and startle responses appeared...
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