Article
Clinical, genetic, and functional characterization of the glycine receptor β-subunit A455P variant in a family affected by hyperekplexia syndrome.
The Journal of biological chemistry - 1 Jul 2022
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 Robert J, Harvey Kirsten, Arold Stefan T, Kaya Namik, Ruiz Arnaud J
Abstract excerpt
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 mutations have been reported to affect glycine receptors (GlyRs); however, the mechanistic links between GlyRs and...
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