Clinical features and genetic analysis of two siblings with startle disease in an Italian family: a case report

Clinical features and genetic analysis of two siblings with startle disease in an Italian family: a case report

Abstract Background Hyperekplexia also known as Startle disease is a rare neuromotor hereditary disorder characterized by exaggerated startle responses to unexpected auditory, tactile, and visual stimuli and generalized muscle stiffness, which both gradually subside during the first months of life....

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Bibliographic Details
Main Authors: Teresa Sprovieri, Carmine Ungaro, Serena Sivo, Michela Quintiliani, Ilaria Contaldo, Chiara Veredice, Luigi Citrigno, Maria Muglia, Francesca Cavalcanti, Sebastiano Cavallaro, Eugenio Mercuri, Domenica Battaglia
Format: Article
Language:English
Published: BMC 2019-03-01
Series:BMC Medical Genetics
Subjects:
Hyperekplexia
Startle disease
GLRA1
NGS
Online Access:http://link.springer.com/article/10.1186/s12881-019-0779-x

Internet

http://link.springer.com/article/10.1186/s12881-019-0779-x

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