Behr Syndrome Latest Advances

Genetic and Clinical Investigations of C12orf65 Gene Mutations in Three Chinese Pedigrees.

Journal: Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society

Published: September 25, 2025

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

Journal: Epilepsy & behavior reports

Published: November 17, 2023

Biallelic Optic Atrophy 1 (OPA1) Related Disorder-Case Report and Literature Review.

Journal: Genes

Published: April 16, 2022

Behr syndrome and hypertrophic cardiomyopathy in a family with a novel UCHL1 deletion.

Journal: Journal of neurology

Published: May 17, 2020

Concurrent OPA1 mutation and chromosome 3q deletion leading to Behr syndrome: a case report.

Journal: BMC pediatrics

Published: February 25, 2020

Metabolic stroke in a patient with bi-allelic OPA1 mutations.

Journal: Metabolic brain disease

Published: September 11, 2018

Leigh-like neuroimaging features associated with new biallelic mutations in OPA1.

Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society

Published: October 28, 2016

Generation of optic atrophy 1 patient-derived induced pluripotent stem cells (iPS-OPA1-BEHR) for disease modeling of complex optic atrophy syndromes (Behr syndrome).

Journal: Stem cell research

Published: September 07, 2016

Behr syndrome with homozygous C19ORF12 mutation.

Journal: Journal of the neurological sciences

Published: March 31, 2015

Recessive optic atrophy, sensorimotor neuropathy and cataract associated with novel compound heterozygous mutations in OPA1.

Journal: Molecular medicine reports

Published: February 03, 2015

'Behr syndrome' with OPA1 compound heterozygote mutations.

Journal: Brain : a journal of neurology

Published: August 23, 2014

Reply: 'Behr syndrome' with OPA1 compound heterozygote mutations.

Journal: Brain : a journal of neurology

Published: August 23, 2014

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Genetic and Clinical Investigations of C12orf65 Gene Mutations in Three Chinese Pedigrees.

Genetic and Clinical Investigations of C12orf65 Gene Mutations in Three Chinese Pedigrees.

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

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

Biallelic Optic Atrophy 1 (OPA1) Related Disorder-Case Report and Literature Review.

Biallelic Optic Atrophy 1 (OPA1) Related Disorder-Case Report and Literature Review.

Behr syndrome and hypertrophic cardiomyopathy in a family with a novel UCHL1 deletion.

Behr syndrome and hypertrophic cardiomyopathy in a family with a novel UCHL1 deletion.

Concurrent OPA1 mutation and chromosome 3q deletion leading to Behr syndrome: a case report.

Concurrent OPA1 mutation and chromosome 3q deletion leading to Behr syndrome: a case report.

Metabolic stroke in a patient with bi-allelic OPA1 mutations.

Metabolic stroke in a patient with bi-allelic OPA1 mutations.

Leigh-like neuroimaging features associated with new biallelic mutations in OPA1.

Leigh-like neuroimaging features associated with new biallelic mutations in OPA1.

Generation of optic atrophy 1 patient-derived induced pluripotent stem cells (iPS-OPA1-BEHR) for disease modeling of complex optic atrophy syndromes (Behr syndrome).

Generation of optic atrophy 1 patient-derived induced pluripotent stem cells (iPS-OPA1-BEHR) for disease modeling of complex optic atrophy syndromes (Behr syndrome).

Behr syndrome with homozygous C19ORF12 mutation.

Behr syndrome with homozygous C19ORF12 mutation.

Recessive optic atrophy, sensorimotor neuropathy and cataract associated with novel compound heterozygous mutations in OPA1.

Recessive optic atrophy, sensorimotor neuropathy and cataract associated with novel compound heterozygous mutations in OPA1.

'Behr syndrome' with OPA1 compound heterozygote mutations.

'Behr syndrome' with OPA1 compound heterozygote mutations.

Reply: 'Behr syndrome' with OPA1 compound heterozygote mutations.

Reply: 'Behr syndrome' with OPA1 compound heterozygote mutations.