Results 1 to 10 of about 1,033 (156)

Anxiety and Startle Phenotypes in Glrb Spastic and Glra1 Spasmodic Mouse Mutants [PDF]

Frontiers in Molecular Neuroscience, 2020
A GWAS study recently demonstrated single nucleotide polymorphisms (SNPs) in the human GLRB gene of individuals with a prevalence for agoraphobia. GLRB encodes the glycine receptor (GlyRs) β subunit.
Natascha Schaefer, Jeremy Signoret-Genest, Cora R Von Collenberg   +2 more
exaly   +8 more sources

A novel compound mutation in GLRA1 cause hyperekplexia in a Chinese boy- a case report and review of the literature [PDF]

BMC Medical Genetics, 2017
Background The pathogenesis of hereditary hyperekplexia is thought to involve abnormalities in the glycinergic neurotransmission system, the most of mutations reported in GLRA1.
Zhiliang Yang
exaly   +6 more sources

Pathophysiological Mechanisms of Dominant and Recessive GLRA1 Mutations in Hyperekplexia [PDF]

Journal of Neuroscience, 2010
Hyperekplexia is a rare, but potentially fatal, neuromotor disorder characterized by exaggerated startle reflexes and hypertonia in response to sudden, unexpected auditory or tactile stimuli. This disorder is primarily caused by inherited mutations in the genes encoding the glycine receptor (GlyR) alpha1 subunit (GLRA1) and the presynaptic glycine ...
Jonathan G L Mullins, Daniel F Gilbert, Michael Freilinger   +2 more
exaly   +15 more sources

A loss-of-function variant in canine GLRA1 associates with a neurological disorder resembling human hyperekplexia. [PDF]

Hum Genet, 2023
Abstract Hereditary hyperekplexia is a rare neuronal disorder characterized by an exaggerated startle response to sudden tactile or acoustic stimuli. In this study, we present a Miniature Australian Shepherd family showing clinical signs, which have genetic and phenotypic similarities with human hereditary ...
Heinonen T, Flegel T, Müller H, Kehl A, Hundi S, Matiasek K, Fischer A, Donner J, Forman OP, Lohi H, Hytönen MK.   +10 more
europepmc   +6 more sources

Glycine–GLRA1–calmodulin signaling regulates endoplasmic reticulum calcium to sustain insulin secretion and β-cell function [PDF]

Life Metab
Abstract Glycine, a non-essential amino acid, has been linked to improved metabolic health and enhanced insulin secretion, yet its mechanistic role in β-cell function remains poorly defined. Here, we identify a glycine–GLRA1–calmodulin signaling axis that regulates endoplasmic reticulum (ER) calcium homeostasis to support insulin ...
Zhang Jiarui, Cao Zehui, Wang Sijia
exaly   +3 more sources

Diagnostic Dilemma in an Infant With Sound-Triggered Motor Events: Reflex Epilepsy Versus Exaggerated Startle-A Case Report. [PDF]

Clin Case Rep
ABSTRACT Auditory‐triggered motor events in infancy present a significant diagnostic challenge due to overlap between epileptic and non‐epileptic startle phenomena. We report the case of a term female infant with neonatal‐onset seizures and subsequent development of reproducible sound‐triggered jerky movements, raising diagnostic uncertainty between ...
Pandit A, Koirala M, Shahi A, Sharma A, Panta A, Rimal S.   +5 more
europepmc   +2 more sources

STARDEV Study: Neurodevelopmental Trajectory and Long-Term Outcomes of Patients with Startle Disease/Hyperekplexia. [PDF]

Mov Disord Clin Pract
Abstract Background Although initial clinical presentation of hyperekplexia/startle disease is well known, data regarding long‐term clinical outcomes is lacking. Objectives We provide a long‐term evaluation from clinical and pharmacological perspectives, focusing on neurodevelopmental trajectory. Methods Twenty‐eight patients from nine French hospitals
Pina D, Roubertie A, Spitz MA, Ravelli C, Bahi-Buisson N, Gheurbi F, Buchy M, Loppinet T, Chemaly-Perin N, Nougues MC, Heron B, Lopez R, Anheim M, Fradin M, Cances C, Avez-Couturier J, Dalmon F, Lesca G, Des Portes V, Lion-François L.   +19 more
europepmc   +2 more sources

Single-cell RNA-seq transcriptomic landscape of human and mouse islets and pathological alterations of diabetes [PDF]

iScience, 2022
Summary: Single-cell RNA sequencing has paved the way for delineating the pancreatic islet cell atlas and identifying hallmarks of diabetes. However, pathological alterations of type 2 diabetes (T2D) remain unclear.
Kai Chen, Junqing Zhang, Youyuan Huang, Xiaodong Tian, Yinmo Yang, Aimei Dong   +5 more
doaj   +2 more sources

A case of childhood hyperekplexia due to a novel nonsense variant in the GLRA1 gene. [PDF]

Medicine (Baltimore)
Rationale: Hyperekplexia is a rare hereditary neurological disorder characterized by an exaggerated startle response and generalized rigidity. It is frequently misdiagnosed as epilepsy, leading to unnecessary treatment. We report a case of mild hyperekplexia caused by a novel
Lin SZ, Sun XY, Tan YY, Qi YF, Jiang K.
europepmc   +3 more sources

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

Revista Paulista de Pediatria
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 ...
Beatriz Salimon Carlos dos Santos, João Pedro Garcia de Mattos, Laura Souza Juliano, Rodrigo Rigoleto de Souza, César Antônio Franco Marinho   +4 more
doaj   +2 more sources