Results 91 to 100 of about 1,995 (192)
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 +11 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
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 +4 more
doaj
Hyperekplexia with congenital heart disease: anesthetic concerns and management [PDF]
Anesthesia and Pain Medicine, 2022 Manbir Kaur +3 more
doaj +1 more source
Treatment of startle and related disorders. [PDF]
Clin Park Relat Disord, 2023 Lim TT +4 more
europepmc +1 more source
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 +4 more
doaj
Dual Role of Dysfunctional Asc-1 Transporter in Distinct Human Pathologies, Human Startle Disease, and Developmental Delay. [PDF]
eNeuro, 2023 Drehmann P +7 more
europepmc +1 more source
Nose-tapping Test in Hyperekplexia [PDF]
Indian Pediatrics, 2018 Venkat Reddy, Kallem +2 more
openaire +2 more sources
Hyperekplexia: A Treatable Seizure Mimicker in Infants. [PDF]
Cureus, 2023 Dudipala SC, Reddy RV, Shankar R.
europepmc +1 more source
A novel GLRA1 mutation in a recessive hyperekplexia pedigree
We report the identification of a novel Y228C mutation within the M1 trans-membrane domain of the GLRA1 subunit of the glycine receptor responsible for a severe recessive hyperekplexia phenotype in a Kurdish pedigree.
Forsyth RJ +3 more
core +3 more sources