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Hereditary Hyperekplexia: A New Family and a Systematic Review of GLRA1 Gene-Related Phenotypes.
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), …
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