Hyperekplexia in two siblings |
| |
Authors: | M. L. Kulkarni B. Kannan Prakash Mathadh |
| |
Affiliation: | (1) Department of Pediatrics, JJMMC, House No. 2373, MCC ‘A’ Block, 9th Main, 577 004 Davangere, Karnataka |
| |
Abstract: | Hyperekplexia is a rare, hereditary, non-epileptic disorder characterized by an exaggerated startle reaction to unexpected auditory, somatosensory and visual stimuli. The authors describe a one-day-old term neonate, who presented with jitteriness and episodic tonic spasms, and his elder sister with hyperekplexia. Hyperekplexia though is a rare disorder is one of the differential diagnoses for refractory tonic spasms in infancy. The prognosis is generally good in hereditary hyperekplexia. Recent molecular studies have revealed many associated mutations in the glycine receptor alpha and beta subunit genes. |
| |
Keywords: | Hyperekplexia Startle response Glycine receptor |
本文献已被 PubMed SpringerLink 等数据库收录! |
|