Recurrent super-refractory status epilepticus and stroke like episode in a patient with Behr syndrome secondary to biallelic variants in OPA1 gene-Reference-Cited by-同舟云学术

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Recurrent super-refractory status epilepticus and stroke like episode in a patient with Behr syndrome secondary to biallelic variants in OPA1 gene

Published:2024 Issue: Volume:25 Page:100652
ISSN:2589-9864
Container-title:Epilepsy & Behavior Reports
language:en
Short-container-title:Epilepsy & Behavior Reports

Author:

Jagadish Spoorthi^ORCID,Calhoun Amy R.U.L.,Ganganna Sreenath Thati

Publisher

Elsevier BV

Reference22 articles.

1. Multi-system neurological disease is common in patients with OPA1 mutations;Yu-Wai-Man;Brain,2010

2. Early-onset severe neuromuscular phenotype associated with compound heterozygosity for OPA1 mutations;Schaaf;Mol Genet Metab,2011

3. Early-onset Behr syndrome due to compound heterozygous mutations in OPA1. brain: a;Bonneau;J Neurol,2014

4. Biallelic optic atrophy (OPA1) related disorder- case report and literature review;Othman;Genes (Basel),2022

5. OPA1 functions in mitochondria and dysfunctions in optic nerve;Lenaers;Int J Biochem Cell Biol,2009

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