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Hereditary Hyperekplexia: A New Family and a Systematic Review of GLRA1 Gene-Related Phenotypes.
Ferraroli E, Perulli M, Veredice C, Contaldo I, Quintiliani M, Ricci M, Venezia I, Citrigno L, Qualtieri A, Spadafora P, Cavalcanti F, Battaglia DI. Ferraroli E, et al. Pediatr Neurol. 2022 Jul;132:45-49. doi: 10.1016/j.pediatrneurol.2022.05.002. Epub 2022 May 17. Pediatr Neurol. 2022. PMID: 35636282 Review.
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. ...
Hereditary hyperekplexia (HPX) is a genetic neurodevelopmental disorder recently defined by the triad of (1) neonatal hypertonia, (2) …
Clinical spectrum and diagnostic pitfalls of neurologic syndromes with Ri antibodies.
Simard C, Vogrig A, Joubert B, Muñiz-Castrillo S, Picard G, Rogemond V, Ducray F, Berzero G, Psimaras D, Antoine JC, Desestret V, Honnorat J. Simard C, et al. Neurol Neuroimmunol Neuroinflamm. 2020 Mar 13;7(3):e699. doi: 10.1212/NXI.0000000000000699. Print 2020 May. Neurol Neuroimmunol Neuroinflamm. 2020. PMID: 32170042 Free PMC article.
Misdiagnoses concerned 22% of patients (n = 8) and included atypical parkinsonism (n = 2), MS (n = 2), Bickerstaff encephalitis (n = 1), hyperekplexia (n = 1), vestibular neuritis (n = 1), and functional neurologic disorder (n = 1). ...
Misdiagnoses concerned 22% of patients (n = 8) and included atypical parkinsonism (n = 2), MS (n = 2), Bickerstaff encephalitis (n = 1), …