RESUMEN
Hyperekplexia (HK) or startle disease is an uncommon, early infantile onset, potentially treatable neurogenetic disorder. It is characterized by an exaggerated startle reflex in response to tactile or acoustic or visual stimuli followed by generalized hypertonia. It is caused by genetic mutations in a number of different genes such as GLRA1, SLC6A5, GLRB, GPHN, and ARHGEF9. HK is frequently misdiagnosed as a form of epilepsy and is advised for prolonged antiseizure medications. Here, we report a two-month-old female child with HK, who was treated for epilepsy. Next-generation sequencing revealed a pathogenic homozygous missense mutation of variant c.1259C>A in exon 9 of the GLRA1 gene that was compatible with the diagnosis of hyperekplexia-1.
