Clinical, genetic, and functional characterization of the glycine receptor β-subunit A455P variant in a family affected by hyperekplexia syndrome

• Published in: The Journal of biological chemistry Vol. 298; no. 7; p. 102018
• Main Authors: Aboheimed, Ghada I., AlRasheed, Maha M., Almudimeegh, Sultan, Peña-Guerra, Karla A., Cardona-Londoño, Kelly J., Salih, Mustafa A., Seidahmed, Mohammed Z., Al-Mohanna, Futwan, Colak, Dilek, Harvey, Kirsten, Arold, Stefan T., Kaya, Namik, Ruiz, Arnaud J.
• Format: Journal Article
• Language: English
• Published: United States Elsevier Inc 01.07.2022; American Society for Biochemistry and Molecular Biology
• Subjects: autozygosity mapping; coimmunoprecipitation; confocal imaging; exome sequencing; GLRB; Humans; Hyperekplexia - genetics; immunohistochemistry; Infant, Newborn; Muscle Rigidity; Mutation; Mutation, Missense; patch clamp; Receptors, Glycine - genetics; startle disease; exome sequencing; patch clamp; GLRB; startle disease; confocal imaging; TM; immunohistochemistry; NGS; autozygosity mapping; coimmunoprecipitation; GlyR

Hyperekplexia is a rare neurological disorder characterized by exaggerated startle responses affecting newborns with the hallmark characteristics of hypertonia, apnea, and noise or touch-induced nonepileptic seizures. The genetic causes of the disease can vary, and several associated genes and mutat...