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Clinical and genetic investigation of 17 Japanese patients with hyperekplexia

30 Oct 2014

Abstract excerpt

AIM: The aim of the study was to determine clinical and genetic characteristics of Japanese patients with hyperekplexia. METHOD: Clinical 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. RESULTS: In all patients, muscle stiffness and startle responses appeared soon...

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PMID: 25356525
DOI: 10.1111/dmcn.12617

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