Results 1 to 10 of about 1,314 (118)

The implications of hyperekplexia on children's quality of life: a report on two cases. [PDF]

Rev Paul Pediatr
Objective: To report two pediatric cases of hyperekplexia in a small city of São Paulo state, Brazil. Case description: Two female patients, one aged three years and six months and one aged five months, receiving care from an APAE (Association of ...
Santos BSCD, Mattos JPG, Juliano LS, Souza RR, Marinho CAF.   +4 more
europepmc   +2 more sources

Clinical features of progressive encephalomyelitis with rigidity and myoclonus: Case Report. [PDF]

Front Immunol
Progressive encephalomyelitis with rigidity and myoclonus (PERM) is a rare neurological disorder characterized by rigidity, painful spasms, hyperekplexia, brainstem involvement, and autonomic dysfunction.
Qin L, Chen Q.
europepmc   +2 more sources

Familial Hyperekplexia: Lessons From The Other Face of The Coin [PDF]

Annals of Neonatology Journal, 2020
In this issue, we represent a case which may posse special interest to many neonatologists. Apparently healthy female neonate was born by spontaneous vaginal delivery as a sixth offspring to a third-degree consanguineous Egyptian parent.
Samir Mounir
doaj   +1 more source

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

Journal of Movement Disorders, 2017
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 ...
Yoonju Lee, Nan Young Kim, Sangkyoon Hong, Su Jin Chung, Seong Ho Jeong, Phil Hyu Lee, Young H. Sohn   +6 more
doaj   +1 more source

Rare Coexistence of SLC6A9 and TOR1A Gene Mutations in a Neonate Presenting with Hereditary Hyperekplexia and Arthrogryposis Multiplex Congenita: A Case Report with Review of Literature

Indian Pediatrics Case Reports, 2023
Background: Neonatal hyperekplexia is a rare nonepileptiform disorder characterized by an exaggerated startle reflex associated with generalized hypertonia.
Bhavya Patel, Shwetal Bhatt, Vaishali Chanpura   +2 more
doaj   +1 more source

SPEECH ACT FUNCTIONS OF MPOK ATIEK’S HYPEREKPLEXIA VERBAL REACTION

Jurnal KATA: Penelitian tentang Ilmu Bahasa dan Sastra, 2020
This qualitative descriptive research aims to describe the functions of the verbal reaction or speech utterances that was spoken by MA (Mpok Atiek). The verbal reactions or speech utterances are analyzed through the theory of  Searle (1996) which is ...
Anisa Nurjanah
doaj   +1 more source

Case report of a PRDM5 linked brittle cornea syndrome type 2 in association with a novel SLC6A5 mutation

Indian Journal of Ophthalmology, 2020
A 3-year-old girl presenting with blue sclera, hyperlaxity and developmental dysplasia of hip was found to have bilateral corneal thinning with astigmatism and keratoconus.
Agnes Selina, Deepa John, Lakshmi Loganathan, Vrisha Madhuri   +3 more
doaj   +1 more source

Anti-glycine receptor antibody-positive progressive encephalomyelitis with rigidity and myoclonus initially presenting with one-sided stiff face: A case report

Frontiers in Neurology, 2022
BackgroundProgressive encephalomyelitis with rigidity and myoclonus (PERM) is a subtype of stiff-person syndrome, a rare cerebrospinal disease that causes brainstem symptoms, myoclonus, muscle rigidity, and hyperekplexia.Case presentationA 71-year-old ...
Ken-Ichi Irie, Takahisa Tateishi, Taiga Moritaka, Naonori Sakurada, Shinsuke Kikuchi, Takayuki Taniwaki   +5 more
doaj   +1 more source

β Subunit M2-M3 loop conformational changes are uncoupled from α1 β glycine receptor channel gating: implications for human hereditary hyperekplexia. [PDF]

PLoS ONE, 2011
Hereditary hyperekplexia, or startle disease, is a neuromotor disorder caused mainly by mutations that either prevent the surface expression of, or modify the function of, the human heteromeric α1 β glycine receptor (GlyR) chloride channel.
Qiang Shan, Lu Han, Joseph W Lynch
doaj   +1 more source

Novel Functional Properties of Missense Mutations in the Glycine Receptor β Subunit in Startle Disease

Frontiers in Molecular Neuroscience, 2021
Startle disease is a rare disorder associated with mutations in GLRA1 and GLRB, encoding glycine receptor (GlyR) α1 and β subunits, which enable fast synaptic inhibitory transmission in the spinal cord and brainstem.
Inken Piro, Anna-Lena Eckes, Vikram Babu Kasaragod, Claudia Sommer, Robert J. Harvey, Robert J. Harvey, Natascha Schaefer, Carmen Villmann   +7 more
doaj   +1 more source