Literature DB >> 28566159

Paroxysmal sensory (spinal) attacks without hyperexplexia in a patient with a variant in the GLRA1 gene.

M J Zwarts1, M H Willemsen2, E-J Kamsteeg3, H J Schelhaas4.   

Abstract

Entities:  

Keywords:  GLRA1; Hyperexplexia; Mutation; Sensory; Spinal

Mesh：

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Year:  2017        PMID： 28566159     DOI： 10.1016/j.jns.2017.05.024

Source DB:  PubMed          Journal:  J Neurol Sci        ISSN： 0022-510X            Impact factor:   3.181


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  2 in total

1.  Clinical features and genetic analysis of two siblings with startle disease in an Italian family: a case report.

Authors:  Teresa Sprovieri; Carmine Ungaro; Serena Sivo; Michela Quintiliani; Ilaria Contaldo; Chiara Veredice; Luigi Citrigno; Maria Muglia; Francesca Cavalcanti; Sebastiano Cavallaro; Eugenio Mercuri; Domenica Battaglia
Journal:  BMC Med Genet       Date:  2019-03-12       Impact factor: 2.103

2.  Excessive Startle with Novel GLRA1 Mutations in 4 Chinese Patients and a Literature Review of GLRA1-Related Hyperekplexia.

Authors:  Feixia Zhan; Chao Zhang; Shige Wang; Zeyu Zhu; Guang Chen; Mingliang Zhao; Li Cao
Journal:  J Clin Neurol       Date:  2020-04       Impact factor: 3.077
  2 in total

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