Novel mutation of GLRA1 in Omani families with hyperekplexia and mild mental retardation.

@article{AlFutaisi2012NovelMO,
  title={Novel mutation of GLRA1 in Omani families with hyperekplexia and mild mental retardation.},
  author={Amna Mohammed Al-Futaisi and Mohammed Nasser Al-Kindi and Al-Mundher Al-Mawali and Roshan Lal Koul and Samir Al-Adawi and Said Al-yahyaee},
  journal={Pediatric neurology},
  year={2012},
  volume={46 2},
  pages={89-93}
}
Hyperekplexia is characterized by neonatal hypertonia and exaggerated startle reflex in response to loud noise or tactile stimuli. Mutations in patients with hyperekplexia were evident in several genes encoding proteins involved in glycinergic neurotransmission, i.e., glycine receptor α and β subunits, collybistin, gephyrin, and glycine transporter 2. We clinically and genetically characterized two large, unrelated consanguineous families with hyperekplexia. Affected members of the two families… CONTINUE READING