Familiar Hyperekplexia, a Potential Cause of Cautious Gait: A New Korean Case and a Systematic Review of Phenotypes
DC Field | Value | Language |
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dc.contributor.author | Lee, Yoonju | - |
dc.contributor.author | Kim, Nan Young | - |
dc.contributor.author | Hong, Sangkyoon | - |
dc.contributor.author | CHUNG, SU JIN | - |
dc.contributor.author | Jeong, Seong Ho | - |
dc.contributor.author | Lee, Phil Hyu | - |
dc.contributor.author | Sohn, Young H. | - |
dc.date.accessioned | 2022-07-14T20:05:10Z | - |
dc.date.available | 2022-07-14T20:05:10Z | - |
dc.date.created | 2021-05-14 | - |
dc.date.issued | 2017-01 | - |
dc.identifier.issn | 2005-940X | - |
dc.identifier.uri | https://scholarworks.bwise.kr/hanyang/handle/2021.sw.hanyang/153019 | - |
dc.description.abstract | Familial hyperekplexia, also called startle disease, is a rare neurological disorder characterized by excessive startle responses to noise or touch. It can be associated with serious injury from frequent falls, apnea spells, and aspiration pneumonia. Familial hyperekplexia has a heterogeneous genetic background with several identified causative genes; it demonstrates both dominant and recessive inheritance in the α1 subunit of the glycine receptor (GLRA1), the β subunit of the glycine receptor and the presynaptic sodium and chloride-dependent glycine transporter 2 genes. Clonazepam is an effective medical treatment for hyperekplexia. Here, we report genetically confirmed familial hyperekplexia patients presenting early adult cautious gait. Additionally, we review clinical features, mode of inheritance, ethnicity and the types and locations of mutations of previously reported hyperekplexia cases with a GLRA1 gene mutation. | - |
dc.language | 영어 | - |
dc.language.iso | en | - |
dc.publisher | 대한파킨슨병및이상운동질환학회 | - |
dc.title | Familiar Hyperekplexia, a Potential Cause of Cautious Gait: A New Korean Case and a Systematic Review of Phenotypes | - |
dc.type | Article | - |
dc.contributor.affiliatedAuthor | CHUNG, SU JIN | - |
dc.identifier.doi | 10.14802/jmd.16044 | - |
dc.identifier.bibliographicCitation | Journal Of Movement Disorders, v.10, no.1, pp.53 - 58 | - |
dc.relation.isPartOf | Journal Of Movement Disorders | - |
dc.citation.title | Journal Of Movement Disorders | - |
dc.citation.volume | 10 | - |
dc.citation.number | 1 | - |
dc.citation.startPage | 53 | - |
dc.citation.endPage | 58 | - |
dc.type.rims | ART | - |
dc.type.docType | 정기학술지(Article(Perspective Article포함)) | - |
dc.identifier.kciid | ART002192096 | - |
dc.description.journalClass | 2 | - |
dc.description.isOpenAccess | Y | - |
dc.description.journalRegisteredClass | kci | - |
dc.description.journalRegisteredClass | other | - |
dc.relation.journalResearchArea | Neurosciences & Neurology | - |
dc.relation.journalWebOfScienceCategory | Clinical Neurology | - |
dc.subject.keywordAuthor | Hyperekplexia | - |
dc.subject.keywordAuthor | GLRA1 | - |
dc.subject.keywordAuthor | deep phenotyping. | - |
dc.identifier.url | https://www.e-jmd.org/journal/view.php?doi=10.14802/jmd.16044 | - |
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