{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,3]],"date-time":"2026-05-03T10:10:53Z","timestamp":1777803053038,"version":"3.51.4"},"reference-count":23,"publisher":"SAGE Publications","issue":"12","license":[{"start":{"date-parts":[[2008,9,4]],"date-time":"2008-09-04T00:00:00Z","timestamp":1220486400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Child Neurol"],"published-print":{"date-parts":[[2008,12]]},"abstract":"<jats:p>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.<\/jats:p>","DOI":"10.1177\/0883073808320754","type":"journal-article","created":{"date-parts":[[2008,12,10]],"date-time":"2008-12-10T12:18:42Z","timestamp":1228911522000},"page":"1433-1438","source":"Crossref","is-referenced-by-count":15,"title":["A Novel\n                    <i>GLRA1<\/i>\n                    Mutation Associated with An Atypical Hyperekplexia Phenotype"],"prefix":"10.1177","volume":"23","author":[{"given":"Mary L.","family":"Gregory","sequence":"first","affiliation":[{"name":"J.C. Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood, South Carolina, Department of Neurosciences (Neurology), Medical University of South Carolina, Charleston, South Carolina"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Greg F.","family":"Guzauskas","sequence":"additional","affiliation":[{"name":"J.C. Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood, South Carolina"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Terence S.","family":"Edgar","sequence":"additional","affiliation":[{"name":"Department of Neurosciences (Neurology), Medical University of South Carolina, Charleston, South Carolina"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kate B.","family":"Clarkson","sequence":"additional","affiliation":[{"name":"J.C. Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood, South Carolina"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anand K.","family":"Srivastava","sequence":"additional","affiliation":[{"name":"J.C. 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