Article

ARV1 Gene: Another example for one gene many faces

2023-03-30

Abstract excerpt

<h4>Background: </h4> ARV1 mutation is known to present as Developmental epileptic encephalopathy (DEE)-38. However, the phenotypic spectrum has been expanding ever since it was reported in 2016. Along with the seizures and developmental delay other unique clinical features include ophthalmological abnormalities and movement disorders in the form of ataxia and dystonia especially in those with missense mutation. T...

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Literature Corpus work: 46044752-7f7b-5483-9f32-b35211e76f3d
DOI: 10.21203/rs.3.rs-2736395/v1

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