Familiar Hyperekplexia, a Potential Cause of Cautious Gait: A New Korean Case and a Systematic Review of Phenotypes
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 geneti...
Main Authors: | Yoonju Lee, Nan Young Kim, Sangkyoon Hong, Su Jin Chung, Seong Ho Jeong, Phil Hyu Lee, Young H. Sohn |
---|---|
Format: | Article |
Language: | English |
Published: |
Korean Movement Disorder Society
2017-01-01
|
Series: | Journal of Movement Disorders |
Subjects: | |
Online Access: | http://e-jmd.org/upload/jmd-16044.pdf |
Similar Items
-
SPEECH ACT FUNCTIONS OF MPOK ATIEK’S HYPEREKPLEXIA VERBAL REACTION
by: Anisa Nurjanah
Published: (2020-05-01) -
Hyperekplexia, Apneas, Developmental Delay, and Genetic Correlations
by: J Gordon Millichap
Published: (2013-11-01) -
Neonatal Hyperekplexia
by: J Gordon Millichap
Published: (1997-05-01) -
A novel compound mutation in GLRA1 cause hyperekplexia in a Chinese boy- a case report and review of the literature
by: Zhiliang Yang, et al.
Published: (2017-10-01) -
A novel syndrome of lethal familial hyperekplexia associated with brain malformation
by: Seidahmed Mohammed, et al.
Published: (2012-10-01)