Results 131 to 140 of about 1,033 (156)

Hyperekplexia-like syndromes without mutations in the GLRA1 gene

Clinical Neurology and Neurosurgery, 1997
Hyperekplexia (MIM: 149400), or startle disease, is an autosomal dominant neurological disorder characterized by an extreme generalized stiffness immediately after birth, normalizing during the first years of life. Other features of this disorder are excessive startle reactions to unexpected, particularly auditory, stimuli together with a short period ...
Vergouwe, M. N., Tijssen, M. A., Shiang, R., van Dijk, J. G., al Shahwan, S., Ophoff, R. A., Frants, R. R.   +6 more
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Four Turkish families with hyperekplexia: A missense mutation and the exon 1–7 deletion in the GLRA1 gene

Parkinsonism and Related Disorders, 2022
Hyperekplexia is a disease that progresses with excessive startle attacks and is included in the differential diagnosis of epilepsy and many movement disorders.The WES results were validated in available family members by Sanger sequencing, or in the case of deletion, PCR followed by agarose gel electrophoresis was performed.WES analysis revealed the ...
Didem Tezen, Gülşah Şimşir, Veysi Demirbilek   +2 more
exaly   +3 more sources

A novel nonsense autosomal dominant mutation in the GLRA1 gene causing hyperekplexia

Journal of Neural Transmission, 2018
We present a family with two members affected by hyperekplexia and two unaffected members. All exons in the glycine receptor alpha 1 subunit gene (GLRA1) were sequenced in all four family members. Our index patient harbored a novel nonsense mutation (p.Trp314*; rs867618642) in the transmembrane domain three of the GLRA1 and a novel missense variant in ...
Ivan Milenkovic, Alexander Zimprich, Stefan Seidel   +2 more
exaly   +3 more sources

Neonatal hyperekplexia with homozygous p.R392H mutation in GLRA1

Epileptic Disorders, 2014
Hyperekplexia is a rare neurogenetic disorder, frequently misdiagnosed in neonates with a risk of apnoea, asphyxia, and sudden infant death. We present video sequences of a male newborn, admitted on the second day of life to the neonatal intensive care unit, due to tonic‐clonic movements.
Fouzia, Hmami, Sian-Elin, Wood, Sana, Chaouki, Abdellah, Oulmaati, Mustapha, Hida, Mark I, Rees, Seo-Kyung, Chung, Abdelhak, Bouharrou   +7 more
openaire   +5 more sources

Hyperekplexia and the  1 Subunit Glycine Receptor Gene (GLRA1)

Archives of Neurology, 1996
Hyperekplexia or startle disease (SD) is a rare neurological disorder characterized by an exaggerated and persistent startle response to unexpected visual, auditory, and proprioceptive stimuli. Hypertonia can also be present, particularly in the neonatal period.1Two different forms of SD have been recognized.
G, Turecki, F, Grand'Maison, B, Lemieux, G, Rouleau   +3 more
openaire   +3 more sources

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

Journal of the Neurological Sciences, 2017
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M H Willemsen
exaly   +3 more sources

Novel GLRA1 missense mutation (P250T) in dominant hyperekplexia defines an intracellular determinant of glycine receptor channel gating.

The Journal of neuroscience : the official journal of the Society for Neuroscience, 1999
Missense mutations as well as a null allele of the human glycine receptor alpha1 subunit gene GLRA1 result in the neurological disorder hyperekplexia [startle disease, stiff baby syndrome, Mendelian Inheritance in Man (MIM) #149400]. In a pedigree showing dominant transmission of hyperekplexia, we identified a novel point mutation C1128A of GLRA1. This
Saul, B., Kuner, T., Sobetzko, D., Brune, W., Hanefeld, F., Meinck, H., Becker, C.   +6 more
openaire   +4 more sources

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

Clinica Chimica Acta, 2006
Wing-Tat Poon, Sui-Fan Tong, Yan-Wo Chan   +2 more
exaly   +2 more sources

A new hyperekplexia family with a recessive frameshift mutation in the GLRA1 gene

Movement Disorders, 2012
Evelien Zoons, Ieke B Ginjaar, Johannes A Carpay   +2 more
exaly   +4 more sources

PO.04 Ethnic variation in GLRA1 genotype in hyperekplexia

Journal of Neurology, Neurosurgery & Psychiatry, 2011
R. Thomas, S. K. Chung, C. L. Hammond, A. Robinson, M. I. Rees   +4 more
openaire   +2 more sources