Article
Hereditary hyperekplexia caused by novel mutations of GLRA1 in Turkish families.
Molecular diagnosis : a journal devoted to the understanding of human disease through the clinical application of molecular biology - 1 Jan 2004
Gilbert Sandra L, Ozdag Fatih, Ulas Umit H, Dobyns William B, Lahn Bruce T
Abstract excerpt
BACKGROUND: Hyperekplexia, also known as startle disease or stiff-person syndrome, is a neurological condition characterized by neonatal hypertonia and a highly exaggerated startle reflex. Genetic studies have linked mutations in the gene encoding glycine receptor alpha1 (GLRA1) with hereditary hyperekplexia. METHODS: We analyzed four Turkish families with a history of hyperekplexia. Genomic DNA was obtained from...
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