Article
Hereditary Hyperekplexia: A New Family and a Systematic Review of GLRA1 Gene-Related Phenotypes.
Pediatric neurology - 1 Jul 2022
Ferraroli Elisabetta, Perulli Marco, Veredice Chiara, Contaldo Ilaria, Quintiliani Michela, Ricci Martina, Venezia Ilaria, Citrigno Luigi, Qualtieri Antonio, Spadafora Patrizia, Cavalcanti Francesca, Battaglia Domenica Immacolata
Abstract excerpt
Hereditary hyperekplexia (HPX) is a genetic neurodevelopmental disorder recently defined by the triad of (1) neonatal hypertonia, (2) excessive startle reflexes, and (3) generalized stiffness following the startle. Defects in GLRA1 are the most common cause of HPX, inherited both in an autosomal dominant and autosomal recessive manner. GLRA1 mutations can also cause milder phenotypes in the startle syndromes...
Topics
- Humans
- Muscle Rigidity
- Phenotype
- Receptors, Glycine
- Reflex, Startle
- Stiff-Person Syndrome