Rees et al. (2006) reported 7 patients, including 2 sibs, with hyperekplexia. Affected individuals presented with neonatal hypertonia, an exaggerated startle response to tactile or acoustic stimuli, and life-threatening neonatal apnea episodes. Notably, in some cases, symptoms resolved ... Rees et al. (2006) reported 7 patients, including 2 sibs, with hyperekplexia. Affected individuals presented with neonatal hypertonia, an exaggerated startle response to tactile or acoustic stimuli, and life-threatening neonatal apnea episodes. Notably, in some cases, symptoms resolved in the first year of life.
In 6 patients, including 2 brothers, with hyperekplexia-3, Rees et al. (2006) identified homozygous or compound heterozygous mutations in the SLC6A5 gene (see, e.g., 604159.0001-604159.0007). An additional patient with the disorder was found to carry a heterozygous mutation ... In 6 patients, including 2 brothers, with hyperekplexia-3, Rees et al. (2006) identified homozygous or compound heterozygous mutations in the SLC6A5 gene (see, e.g., 604159.0001-604159.0007). An additional patient with the disorder was found to carry a heterozygous mutation (604159.0008), consistent with autosomal dominant inheritance.