A novel nonsense autosomal dominant mutation in the GLRA1 gene causing hyperekplexia.
作者： Ivan Milenkovic , Alexander Zimprich , Martin Gencik , Kirsten Platho-Elwischger , Stefan Seidel
DOI: 10.1007/S00702-018-1924-Y
关键词: Nonsense mutation 、 Transmembrane domain 、 Missense mutation 、 Hyperekplexia 、 Exon 、 Mutation (genetic algorithm) 、 Nonsense 、 Genetics 、 Biology 、 Glycine receptor
摘要: We present a family with two members affected by hyperekplexia and unaffected members. All exons in the glycine receptor alpha 1 subunit gene (GLRA1) were sequenced all four Our index patient harbored novel nonsense mutation (p.Trp314*; rs867618642) transmembrane domain three of GLRA1 missense variant NH2-terminal part (p.Val67Met; rs142888296). After development tolerance for effective treatment clobazam drug holiday led to sustained restoration response.
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