Ontology highlight
ABSTRACT:
SUBMITTER: Davies JS
PROVIDER: S-EPMC2854534 | biostudies-literature | 2010
REPOSITORIES: biostudies-literature
Davies Jeff S JS Chung Seo-Kyung SK Thomas Rhys H RH Robinson Angela A Hammond Carrie L CL Mullins Jonathan G L JG Carta Eloisa E Pearce Brian R BR Harvey Kirsten K Harvey Robert J RJ Rees Mark I MI
Frontiers in molecular neuroscience 20100323
Human startle disease, also known as hyperekplexia (OMIM 149400), is a paroxysmal neurological disorder caused by defects in glycinergic neurotransmission. Hyperekplexia is characterised by an exaggerated startle reflex in response to tactile or acoustic stimuli which first presents as neonatal hypertonia, followed in some with episodes of life-threatening infantile apnoea. Genetic screening studies have demonstrated that hyperekplexia is genetically heterogeneous with several missense and nonse ...[more]