Results 91 to 100 of about 1,802 (202)

Hyperekplexia in a neonate: a seizure mimicker

, 2017
Hyperekplexia is an exaggerated startle to external stimuli associated with generalized increase in tone seen in a normal newborn with both sporadic as well as genetic predisposition.
Agarwalla, Sunil Kumar, Patro, Debasis, Debasis Patro, Ankita Pattanaik, Nasreen Ali, Pattanaik, Ankita, Ali, Nasreen, Sunil Kumar Agarwalla   +7 more
core   +1 more source

Individual knock out of glycine receptor alpha subunits identifies a specific requirement of glra1 for motor function in zebrafish.

PLoS ONE, 2019
Glycine receptors (GlyRs) are ligand-gated chloride channels mediating inhibitory neurotransmission in the brain stem and spinal cord. They function as pentamers composed of alpha and beta subunits for which 5 genes have been identified in human (GLRA1 ...
Eric Samarut, Domitille Chalopin, Raphaëlle Riché, Marc Allard, Meijiang Liao, Pierre Drapeau   +5 more
doaj   +1 more source

The genetics of hyperekplexia: more than startle!

, 2008
Hyperekplexia is characterised by neonatal hypertonia and an exaggerated startle reflex in response to acoustic or tactile stimuli. Genetic analysis of this disorder has revealed mutations in genes for several postsynaptic proteins involved in ...
Topf, Maya, Harvey, R.J., Rees, M I, Harvey, Robert J, Topf, M, Harvey, Kirsten, Harvey, K., Mark Rees, Harvey, Robert J., Harvey, K, Rees, M.I., Rees, Mark I.   +11 more
core   +1 more source

A novel GLRA1 mutation in a recessive hyperekplexia pedigree

, 2007
We report the identification of a novel Y228C mutation within the Ml trans-membrane domain of the GLRA1 subunit of the glycine receptor responsible for a severe recessive hyperekplexia phenotype in a Kurdish pedigree.
Tijssen, Marina A. J., Gika, Artemis D., Marina A.J. Tijssen, Forsyth, Rob J., Ginjaar, Leke, Rob J. Forsyth, Ieke Ginjaar, Ginjaar, Ieke, Artemis D. Gika   +8 more
core   +1 more source

Hyperekplexia: a surprise diagnosis

Neurologia i Neurochirurgia Polska, 2020
Özlem, Yayıcı Köken, Özge, Toptaş Dedeoğlu, Ayşe, Aksoy, Deniz, Yüksel   +3 more
openaire   +3 more sources

Hyperekplexia associated with compound heterozygote mutations in the beta-subunit of the human inhibitory glycine receptor (GLRB).

, 2002
Hyperekplexia (MIM: 149400) is a neurological disorder characterized by an excessive startle response which can be caused by mutations in the α1-subunit (GLRA1) of the heteropentameric human inhibitory glycine receptor (hGlyR). These receptors facilitate
Govaert, Paul, REES, MI, Snell, Russell G., Lewis, Trevor M., KWOK, J, SCHOFIELD, PR, LEWIS, TM, Mortier, Geert, Rees, Mark I., GOVAERT, P, Kwok, John B. J., Mark Rees, Schofield, Peter R., OWEN, MJ, Mortier, Geert R., SNELL, RG, Owen, Michael John   +16 more
core   +1 more source

Symptomatic hyperekplexia: an important clue to neurodegeneration in children. [PDF]

BMJ Case Rep, 2023
Banyal P, Arora M, Saini AG.
europepmc   +1 more source

Hyperekplexia: abnormal startle response due to glycine receptor mutations

, 1997
BACKGROUND: Hyperekplexia is a rare but well-delineated clinical syndrome of pathological startle response and neonatal hypertonia. Many cases result from mutations in the alpha 1 subunit of the glycine receptor (GLRA 1).
Andrew, M., Owen, Michael John
core   +1 more source

Treatment of startle and related disorders. [PDF]

Clin Park Relat Disord, 2023
Lim TT, Por CY, Beh YY, Schee JP, Tan AH.   +4 more
europepmc   +1 more source

Proceedings 35th Symposium ESVN‐ECVN

Journal of Veterinary Internal Medicine, Volume 39, Issue 2, March/April 2025.
wiley   +1 more source