Results 141 to 150 of about 1,033 (156)

Hereditary Hyperekplexia caused by Novel Mutations of GLRA1 in Turkish Families

Molecular Diagnosis, 2004
Hyperekplexia, also known as startle disease or stiff-person syndrome, is a neurological condition characterized by neonatal hypertonia and a highly exaggerated startle reflex. Genetic studies have linked mutations in the gene encoding glycine receptor alpha1 (GLRA1) with hereditary hyperekplexia.We analyzed four Turkish families with a history of ...
Sandra L, Gilbert, Fatih, Ozdag, Umit H, Ulas, William B, Dobyns, Bruce T, Lahn   +4 more
openaire   +2 more sources

A Novel GLRA1 Mutation Associated with An Atypical Hyperekplexia Phenotype

Journal of Child Neurology, 2008
Hyperekplexia (MIM #149400) is a rare neurological disorder characterized by an exaggerated startle response, infantile hypertonia and hyperreflexia without spasticity, a hesitant gait that usually improves by 3 years of age, and nocturnal myoclonus. Familial hyperekplexia is usually autosomal dominant resulting from mutations in the inhibitory glycine
Mary L, Gregory, Greg F, Guzauskas, Terence S, Edgar, Kate B, Clarkson, Anand K, Srivastava, Kenton R, Holden   +5 more
openaire   +2 more sources

Novel Mutation of GLRA1 in Omani Families With Hyperekplexia and Mild Mental Retardation

Pediatric Neurology, 2012
Hyperekplexia is characterized by neonatal hypertonia and exaggerated startle reflex in response to loud noise or tactile stimuli. Mutations in patients with hyperekplexia were evident in several genes encoding proteins involved in glycinergic neurotransmission, i.e., glycine receptor α and β subunits, collybistin, gephyrin, and glycine transporter 2 ...
Amna Mohammed, Al-Futaisi, Mohammed Nasser, Al-Kindi, Al-Mundher, Al-Mawali, Roshan Lal, Koul, Samir, Al-Adawi, Said Ali, Al-Yahyaee   +5 more
openaire   +2 more sources

Recessive hyperekplexia due to a new mutation (R100H) in the GLRA1 gene

Movement Disorders, 2005
AbstractHyperekplexia is commonly familial and with dominant transmission. The gene involved, GLRA1, encodes the α1 subunit of the glycine receptor. We describe 3 affected children homozygous for a new mutation, R100H. Both parents were heterozygous carriers; while the father was healthy, the mother has periodic limb movements during sleep.
Eliecer, Coto, Daniel, Armenta, Raúl, Espinosa, Joaquín, Argente, Mónica G, Castro, Victoria, Alvarez   +5 more
openaire   +2 more sources

Hyperekplexia

Journal of Child Neurology, 2012
Hyperekplexia is a rare neurologic disorder, characterized by excessive startle response to unexpected stimuli. There are 3 cardinal features: generalized stiffness immediately after birth that normalizes during the first year of life; excessive startle reflex to unexpected (particularly auditory) stimuli; and a short period of generalized stiffness ...
Keung Kit, Chan, Sharon Wan-Wah, Cherk, Hencher Han-Chih, Lee, Wing Tat, Poon, Albert Yan-Wo, Chan   +4 more
openaire   +2 more sources

A Novel Variant in GLRA1 Associated With Emotional Stimulus‐Sensitive Hemichoreic Movements

American Journal of Medical Genetics Part A
ABSTRACT We present the case of a 61‐year‐old woman with late‐onset hyperkinetic movement disorder, characterized by involuntary, choreiform movements predominantly affecting the right limbs. Symptoms began at age 60 and were exacerbated by emotional stress.
Martina, Giuntini, Lucia, Picchi, Gianfranco, Cafforio, Rosanna, Trovato, Filippo Maria, Santorelli, Marco, Vista, Daniele, Orsucci   +6 more
openaire   +2 more sources

Targeted next-generation sequencing revealed a new mutation in GLRA1 gene in a family with Hereditary Hyperekplexia

2022
Introduction Hereditary Hyperekplexia (HPX) is a genetic neurodevelopmental disorder defined by the triad of neonatal hypertonia, excessive startle reflexes, and generalized stiffness following the startle. Defects in GLRA1 are the most common cause of HPX, inherited both in an autosomal dominant and autosomal recessive manner.
Francesca Cavalcanti, Elisabetta Ferraroli, Marco Perulli, Chiara Veredice, Ilaria Contaldo, Michela Quintiliani, Martina Ricci, Ilaria Venezia, Luigi Citrigno, Antonio Qualtieri, Patrizia Spadafora, Domenica Immacolata Battaglia   +11 more
openaire   +3 more sources

A GLRA1 null mutation in recessive hyperekplexia challenges the functional role of glycine receptors.

American journal of human genetics, 1996
Dominant missense mutations in the human glycine receptor (GlyR) alpha 1 subunit gene (GLRA1) give rise to hereditary hyperekplexia. These mutations impair agonist affinities and change conductance states of expressed mutant channels, resulting in a partial loss of function.
W, Brune, R G, Weber, B, Saul, M, von Knebel Doeberitz, C, Grond-Ginsbach, K, Kellerman, H M, Meinck, C M, Becker   +7 more
openaire   +1 more source

Hyperekplexia: A novel GLRA1 mutation in an Indian family

Journal of the Neurological Sciences, 2019
G. Panandikar, S. Ravat, P. Walzade
openaire   +1 more source

Novel missense mutation (Y279S) in the GLRA1 gene causing hyperekplexia [2]

2012
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Lam, CW, Poon, WT, Au, KM, Chan, YW, Chan, KY, Chow, CB, Tong, SF   +6 more
openaire   +2 more sources