Clinical, genetic, and functional characterization of the glycine receptor β-subunit A455P variant in a family affected by hyperekplexia syndrome
Ghada I. Aboheimed, Maha M. AlRasheed, Sultan Almudimeegh, Karla A. Peña-Guerra, Kelly J. Cardona-Londoño, Mustafa A. Salih, Mohammed Z. Seidahmed, Futwan Al-Mohanna, Dilek Colak, Robert J. Harvey, Kirsten Harvey, Stefan T. Arold, Namik Kaya*, Arnaud J. Ruiz
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