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Neuroimaging and electroencephalogram were normal. The whole exome sequencing suggested a homozygous mutation (frameshift variant c.97delA in exon 2 of the GLRB gene) associated with hyperekplexia 2, resulting in the amino acid substitution p.Lys34fs*27.<\/jats:p>","DOI":"10.1136\/bcr-2023-257260","type":"journal-article","created":{"date-parts":[[2024,10,16]],"date-time":"2024-10-16T00:51:04Z","timestamp":1729039864000},"page":"e257260","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":1,"title":["Neonatal hyperekplexia: a non-epileptic paroxysmal movement disorder with a novel homozygous mutation in the GLRB gene, a seizure mimic"],"prefix":"10.1136","volume":"17","author":[{"ORCID":"https:\/\/orcid.org\/0009-0004-4264-192X","authenticated-orcid":false,"given":"Hera","family":"Fatima","sequence":"first","affiliation":[{"name":"Paediatrics, King George's Medical University, Lucknow, Uttar Pradesh, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shabnam","family":"Shabnam","sequence":"additional","affiliation":[{"name":"Paediatrics, King George's Medical University, Lucknow, Uttar Pradesh, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0805-7370","authenticated-orcid":false,"given":"Shalini","family":"Tripathi","sequence":"additional","affiliation":[{"name":"Paediatrics, King George's Medical University, Lucknow, Uttar Pradesh, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mala","family":"Kumar","sequence":"additional","affiliation":[{"name":"Paediatrics, King George's Medical University, Lucknow, Uttar Pradesh, India"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2024,10,15]]},"reference":[{"key":"2025082709575004000_17.10.e257260.1","doi-asserted-by":"crossref","first-page":"375","DOI":"10.18203\/2320-6012.ijrms20175755","article-title":"Hyperekplexia in a neonate: a seizure mimicker","volume":"6","author":"Agarwalla","year":"2017","journal-title":"Int J Res Med Sci"},{"key":"2025082709575004000_17.10.e257260.2","first-page":"539","article-title":"Neonatal hyperekplexia: the Stiff-Baby syndrome","volume":"43","author":"Sharma","year":"2006","journal-title":"Indian Pediatr"},{"key":"2025082709575004000_17.10.e257260.3","doi-asserted-by":"crossref","first-page":"4095","DOI":"10.1007\/s10072-021-05493-8","article-title":"Advances in hyperekplexia and other startle syndromes","volume":"42","author":"Zhan","year":"2021","journal-title":"Neurol Sci"},{"key":"2025082709575004000_17.10.e257260.4","unstructured":"OMIM . 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