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