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

• Główni autorzy: Teresa Sprovieri (Autor), Carmine Ungaro (Autor), Serena Sivo (Autor), Michela Quintiliani (Autor), Ilaria Contaldo (Autor), Chiara Veredice (Autor), Luigi Citrigno (Autor), Maria Muglia (Autor), Francesca Cavalcanti (Autor), Sebastiano Cavallaro (Autor), Eugenio Mercuri (Autor), Domenica Battaglia (Autor)
• Format: Książka
• Wydane: BMC, 2019-03-01T00:00:00Z.
• Hasła przedmiotowe: article
• Dostęp online: Connect to this object online.

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....