Dual Role of Dysfunctional Asc-1 Transporter in Distinct Human Pathologies, Human Startle Disease, and Developmental Delay. [PDF]
eNeuro, 2023 Drehmann P +7 more
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Identification of a novel missense GLRA1 gene mutation in hyperekplexia: a case report [PDF]
, 2014 Farkas Katalin +4 more
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A loss-of-function variant in canine GLRA1 associates with a neurological disorder resembling human hyperekplexia. [PDF]
Hum Genet, 2023 Heinonen T +10 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
Severe Microcephaly and Metabolic Epilepsy due to Asparagine Synthetase Deficiency. [PDF]
Ann Indian Acad Neurol, 2023 Saini AG +3 more
europepmc +1 more source
Nose-tapping Test in Hyperekplexia [PDF]
Indian Pediatrics, 2018 Venkat Reddy, Kallem +2 more
openaire +2 more sources
Diagnostic Dilemma in an Infant With Sound-Triggered Motor Events: Reflex Epilepsy Versus Exaggerated Startle-A Case Report. [PDF]
Clin Case RepPandit A +5 more
europepmc +1 more source
FEATURES OF A NEW HYPEREKPLEXIA-ASSOCIATED GLYT2 VARIANT
IBRO Neuroscience Reports, 2023 Jorge Sarmiento +5 more
doaj +1 more source
A case of childhood hyperekplexia due to a novel nonsense variant in the GLRA1 gene. [PDF]
Medicine (Baltimore)Lin SZ, Sun XY, Tan YY, Qi YF, Jiang K.
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