Identification of a de novo Lys304Gln mu
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Hoon-Chul Kang; Su Jeong You; Myung Jae Chey; Jong Sam Baik; Jong-Won Kim; Chang
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Article
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2008
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John Wiley and Sons
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English
β 423 KB
## Abstract Startle disease or hyperekplexia (STHE; MIM 149400) is a rare disorder that is characterized by marked muscular hypertonia in infancy and an exaggerated startle response to unexpected acoustic or tactile stimuli. Mutations in the gene encoding the Ξ±β1 subunit of the inhibitory glycine r