Associated Papers
Super-Refractory Status Epilepticus (SRSE) in a Patient With Compound Heterozygous OPA1 Variants: Case Report and Literature Review.
Mohammadi P et al.
Annals of Clinical and Translational Neurology, 2026
Biallelic Optic Atrophy 1 (OPA1) Related Disorder-Case Report and Literature Review.
Othman BA et al.
Genes, 2022
Pathogenicity evaluation and the genotype-phenotype analysis of OPA1 variants.
Xu X et al.
Molecular Genetics and Genomics : Mgg, 2021
Pure and syndromic optic atrophy explained by deep intronic OPA1 mutations and an intralocus modifier.
Bonifert T et al.
Brain : a Journal of Neurology, 2014
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