37 42

Cited 0 times in

Familiar Hyperekplexia, a Potential Cause of Cautious Gait: A New Korean Case and a Systematic Review of Phenotypes

DC FieldValueLanguage
dc.contributor.author손영호-
dc.contributor.author이윤주-
dc.contributor.author이필휴-
dc.contributor.author정수진-
dc.date.accessioned2018-07-20T08:12:07Z-
dc.date.available2018-07-20T08:12:07Z-
dc.date.issued2017-
dc.identifier.issn2093-4939-
dc.identifier.urihttps://ir.ymlib.yonsei.ac.kr/handle/22282913/160956-
dc.description.abstractFamilial 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.description.statementOfResponsibilityopen-
dc.languageEnglish-
dc.publisherKorean Movement Disorders Society-
dc.relation.isPartOfJournal of Movement Disorders-
dc.rightsCC BY-NC-ND 2.0 KR-
dc.rightshttps://creativecommons.org/licenses/by-nc-nd/2.0/kr/-
dc.titleFamiliar Hyperekplexia, a Potential Cause of Cautious Gait: A New Korean Case and a Systematic Review of Phenotypes-
dc.typeArticle-
dc.contributor.collegeCollege of Medicine-
dc.contributor.departmentDept. of Neurology-
dc.contributor.googleauthorYoonju Lee-
dc.contributor.googleauthorNan Young Kim-
dc.contributor.googleauthorSangkyoon Hong-
dc.contributor.googleauthorSu Jin Chung-
dc.contributor.googleauthorSeong Ho Jeong-
dc.contributor.googleauthorPhil Hyu Lee-
dc.contributor.googleauthorYoung H. Sohn-
dc.identifier.doi10.14802/jmd.16044-
dc.contributor.localIdA01982-
dc.contributor.localIdA03024-
dc.contributor.localIdA03270-
dc.contributor.localIdA04668-
dc.relation.journalcodeJ01610-
dc.identifier.eissn2005-940X-
dc.identifier.pmid28122427-
dc.subject.keywordGLRA1-
dc.subject.keywordHyperekplexia-
dc.subject.keyworddeep phenotyping-
dc.contributor.alternativeNameSohn, Young Ho-
dc.contributor.alternativeNameLee, Yoon Ju-
dc.contributor.alternativeNameLee, Phil Hyu-
dc.contributor.alternativeNameChung, Su Jin-
dc.contributor.affiliatedAuthorSohn, Young Ho-
dc.contributor.affiliatedAuthorLee, Yoon Ju-
dc.contributor.affiliatedAuthorLee, Phil Hyu-
dc.contributor.affiliatedAuthorChung, Su Jin-
dc.citation.volume10-
dc.citation.number1-
dc.citation.startPage53-
dc.citation.endPage58-
dc.identifier.bibliographicCitationJournal of Movement Disorders, Vol.10(1) : 53-58, 2017-
Appears in Collections:
1. Journal Papers (연구논문) > 1. College of Medicine (의과대학) > Dept. of Neurology (신경과학교실)

qrcode

Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.