| http://purl.uniprot.org/citations/19073849 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/19073849 | http://www.w3.org/2000/01/rdf-schema#comment | "Hyperekplexia (MIM #149400) is a rare neurological disorder characterized by an exaggerated startle response, infantile hypertonia and hyperreflexia without spasticity, a hesitant gait that usually improves by 3 years of age, and nocturnal myoclonus. Familial hyperekplexia is usually autosomal dominant resulting from mutations in the inhibitory glycine receptor subunit alpha 1 (GLRA1) gene on chromosome 5q. We identified a 3-generation family with progressively severe phenotypes of hyperekplexia. All affected family members were found to be heterozygous for a novel arginine271proline mutation in GLRA1. Long-term follow-up of the affected members of the third generation, now aged 6 and 7 years, reveals enhanced startle responses and persistent hypertonia of the extremities without clonus or a catch, tight heel cords and abnormal toe-walking gait, and plantar flexor reflexes. The 7-year-old child recently reponded well to a benzodiazepine. Future studies are warranted to examine whether this new missense mutation is solely responsible for this atypical phenotype."xsd:string |
| http://purl.uniprot.org/citations/19073849 | http://purl.org/dc/terms/identifier | "doi:10.1177/0883073808320754"xsd:string |
| http://purl.uniprot.org/citations/19073849 | http://purl.uniprot.org/core/author | "Srivastava A.K."xsd:string |
| http://purl.uniprot.org/citations/19073849 | http://purl.uniprot.org/core/author | "Holden K.R."xsd:string |
| http://purl.uniprot.org/citations/19073849 | http://purl.uniprot.org/core/author | "Guzauskas G.F."xsd:string |
| http://purl.uniprot.org/citations/19073849 | http://purl.uniprot.org/core/author | "Gregory M.L."xsd:string |
| http://purl.uniprot.org/citations/19073849 | http://purl.uniprot.org/core/author | "Clarkson K.B."xsd:string |
| http://purl.uniprot.org/citations/19073849 | http://purl.uniprot.org/core/author | "Edgar T.S."xsd:string |
| http://purl.uniprot.org/citations/19073849 | http://purl.uniprot.org/core/date | "2008"xsd:gYear |
| http://purl.uniprot.org/citations/19073849 | http://purl.uniprot.org/core/name | "J Child Neurol"xsd:string |
| http://purl.uniprot.org/citations/19073849 | http://purl.uniprot.org/core/pages | "1433-1438"xsd:string |
| http://purl.uniprot.org/citations/19073849 | http://purl.uniprot.org/core/title | "A novel GLRA1 mutation associated with an atypical hyperekplexia phenotype."xsd:string |
| http://purl.uniprot.org/citations/19073849 | http://purl.uniprot.org/core/volume | "23"xsd:string |
| http://purl.uniprot.org/citations/19073849 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/19073849 |
| http://purl.uniprot.org/citations/19073849 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/19073849 |
| http://purl.uniprot.org/uniprot/#_Q14C71-mappedCitation-19073849 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/19073849 |
| http://purl.uniprot.org/uniprot/#_P23415-mappedCitation-19073849 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/19073849 |
| http://purl.uniprot.org/uniprot/#_Q6LC95-mappedCitation-19073849 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/19073849 |
| http://purl.uniprot.org/uniprot/Q6LC95 | http://purl.uniprot.org/core/mappedCitation | http://purl.uniprot.org/citations/19073849 |
| http://purl.uniprot.org/uniprot/Q14C71 | http://purl.uniprot.org/core/mappedCitation | http://purl.uniprot.org/citations/19073849 |
| http://purl.uniprot.org/uniprot/P23415 | http://purl.uniprot.org/core/mappedCitation | http://purl.uniprot.org/citations/19073849 |