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Identification of a novel missense GLRA1 gene mutation in hyperekplexia: a case report

INTRODUCTION: Hereditary hyperekplexia is a neurological disorder characterized by excessive startle responses with violent jerking to noise or touch, stiffening of the trunk and limbs, clenching of the fists and attacks of a high-frequency trembling. Hyperekplexia has a heterogeneous genetic backgr...

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Detalles Bibliográficos
Autores principales:	Horváth, Emese, Farkas, Katalin, Herczegfalvi, Ágnes, Nagy, Nikoletta, Széll, Márta
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2014
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4096538/ https://www.ncbi.nlm.nih.gov/pubmed/24969041 http://dx.doi.org/10.1186/1752-1947-8-233

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