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Vertical nystagmus is a known clinical feature, is however rarely observed in a specific neurodevelopmental disorder. Based on our experience with Polish patients with glycosylphosphatidylinositol biosynthesis defects (GPIBD) due to PIGN variants, supported by literature review, we have verified the clinical significance of this feature in PIGN-related disorder. We hope to underline the clinical implication of vertical nystagmus in the evaluation of patients with developmental encephalopathy with epilepsy, which may accelerate the neurological diagnosis process by orientating it towards PIGN-GPIBD. Copyright © 2020 Elsevier B.V. All rights reserved.


Aleksandra Jezela-Stanek, Hanna Mierzewska, Elżbieta Szczepanik. Vertical nystagmus as a feature of PIGN-related glycosylphosphatidylinositol biosynthesis defects. Clinical neurology and neurosurgery. 2020 Sep;196:106033

PMID: 32585529

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