Results 101 to 110 of about 1,802 (202)

Functional characterization of compound heterozygosity for GlyRα1 mutations in the startle disease hyperekplexia

, 2002
The human disease hyperekplexia is characterized by excessive startle reactions to auditory and cutaneous stimuli. In its familial form, hyperekplexia has been associated with both dominant and recessive mutations of the GLRA1 gene encoding the glycine ...
Rune R Frants (16165007), Rea, Ruth, Colin Herd (4966564), Colin Herd, Tijssen, Marina A., Dimitri M. Kullmann, Rune R. Frants, Herd, Colin, Dimitri M Kullmann (9257396), Ruth Rea (16163882), Ruth Rea, Frants, Rune R., Marina A Tijssen (16165004), Kullmann, Dimitri M., Marina A. Tijssen   +14 more
core   +1 more source

Startle disease-two sibling cases

The Turkish Journal of Pediatrics, 2005
Startle disease (hyperekplexia) is a rare non-epileptic disorder characterized by hypertonia, generalized stiffness and brief muscle jerks in response to unexpected auditory, somatosensory and visual stimuli.
Mürüvet Elkay, Faruk Incecik, M Ozlem Hergüner, Göksel Leblebisatan, Sakir Altunbaşak   +4 more
doaj  

Beneficial effect of fluoxetine in a case of sporadic hyperekplexia

, 2000
We studied a 67-year-old woman with a sporadic form of hyperekplexia, who experienced 8-10 excessive startle responses to unexpected stimuli per month. Therapy with fluoxetine had a definite beneficial effect.
L. Larizza, S. Sotgiu, M. G. Pitzolu, G. Rosati, Sechi, Gianpietro, Pitzolu, Maria Giuseppina, Sotgiu, Stefano, M. P. Valenti, Larizza, Lidia, G. Sechi, Peterlongo, Paolo, Valenti, Maria P., Rosati, Giulio, P. Peterlongo   +13 more
core   +1 more source

Hyperekplexia: A Treatable Seizure Mimicker in Infants. [PDF]

Cureus, 2023
Dudipala SC, Reddy RV, Shankar R.
europepmc   +1 more source

Ethnicity can predict GLRA1 genotypes in hyperekplexia

, 2015
\ua9 2015 J Neurol Neurosurg Psychiatry.Objectives Hyperekplexia is predominantly caused by mutations in the \ue1-1 subunit of the inhibitory glycine receptor (GLRA1). Three quarters of cases show autosomal-recessive inheritance.
Chung SK, Wood SE, Rees MI, Thomas RH, Drew CJG, Hammond CL   +5 more
core  

Dual Role of Dysfunctional Asc-1 Transporter in Distinct Human Pathologies, Human Startle Disease, and Developmental Delay. [PDF]

eNeuro, 2023
Drehmann P, Milanos S, Schaefer N, Kasaragod VB, Herterich S, Holzbach-Eberle U, Harvey RJ, Villmann C.   +7 more
europepmc   +1 more source

TSEN54 gene-related pontocerebellar hypoplasia type 2 presenting with exaggerated startle response: report of two cases in a family

The Turkish Journal of Pediatrics, 2015
The pontocerebellar hypoplasias (PCHs) are a heterogeneous group of autosomal recessive disorders characterized by hypoplasia of the ventral pons and cerebellum, with variable cerebral involvement and severe psychomotor retardation.
Hülya Maraş-Genç, Emek Uyur-Yalçın, Rasim Özgür Rosti, Joseph G Gleeson, Bülent Kara   +4 more
doaj  

Nose-tapping Test in Hyperekplexia [PDF]

Indian Pediatrics, 2018
Venkat Reddy, Kallem, Sai, Kiran, Srinivas, Murki   +2 more
openaire   +2 more sources

Genotype-phenotype correlations in hyperekplexia: apnoeas, learning difficulties and speech delay

Congenital hyperekplexia is a rare, potentially treatable neuromotor disorder. Three major genes of effect are known, and all three affect glycinergic neurotransmission. Two genes encode for subunits of the postsynaptic inhibitory glycine receptor, GLRA1
Chung, S.-K., Thomas, Rhys Huw, Hammond, C. L., Mullins, J. G. L., Drew, C. J. G., Cushion, T. D., Wood, S. E., Vanbellinghen, J.-F., Rees, M. I.   +8 more
core   +1 more source

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

Hum Genet, 2023
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   +1 more source