Recessive GLRA1 mutations as being caused by nonsense or frameshift mutations in the α1 gene have been increasingly associated with case reports elucidating the molecular genetics of hyperekplexia[6] As autosomal dominant (AD) startle mutations of GLRA1 such as missense mutations R271Q and R271L define case reports with high frequency in hyperekplexic patients, it is important to mention that these AD cases represent only 5 of 30 index cases as recently published[6]. Here, GLRA1 is linked to hyperekplexia.