| Literature DB >> 32585529 |
Aleksandra Jezela-Stanek1, Hanna Mierzewska2, Elżbieta Szczepanik2.
Abstract
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.Entities:
Keywords: Developmental encephalopathy with epilepsy; PIGN gene; Vertical nystagmus
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Year: 2020 PMID： 32585529 DOI： 10.1016/j.clineuro.2020.106033
Source DB: PubMed Journal: Clin Neurol Neurosurg ISSN： 0303-8467 Impact factor: 1.876