Ontology highlight
ABSTRACT:
SUBMITTER: Gimenez C
PROVIDER: S-EPMC3436537 | biostudies-literature | 2012 Aug
REPOSITORIES: biostudies-literature
Giménez Cecilio C Pérez-Siles Gonzalo G Martínez-Villarreal Jaime J Arribas-González Esther E Jiménez Esperanza E Núñez Enrique E de Juan-Sanz Jaime J Fernández-Sánchez Enrique E García-Tardón Noemí N Ibáñez Ignacio I Romanelli Valeria V Nevado Julián J James Victoria M VM Topf Maya M Chung Seo-Kyung SK Thomas Rhys H RH Desviat Lourdes R LR Aragón Carmen C Zafra Francisco F Rees Mark I MI Lapunzina Pablo P Harvey Robert J RJ López-Corcuera Beatriz B
The Journal of biological chemistry 20120629 34
Hyperekplexia or startle disease is characterized by an exaggerated startle response, evoked by tactile or auditory stimuli, producing hypertonia and apnea episodes. Although rare, this orphan disorder can have serious consequences, including sudden infant death. Dominant and recessive mutations in the human glycine receptor (GlyR) α1 gene (GLRA1) are the major cause of this disorder. However, recessive mutations in the presynaptic Na(+)/Cl(-)-dependent glycine transporter GlyT2 gene (SLC6A5) ar ...[more]