Vincent D. Portes

Lyon, France

Last Updated: 09/26/2026

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Found 17 publications

Generation of six hiPSC lines from patients with WDR45-related neurodegenerative disease (Beta-propeller Protein-Associated Neurodegeneration, BPAN).

Generation of six hiPSC lines from patients with WDR45-related neurodegenerative disease (Beta-propeller Protein-Associated Neurodegeneration, BPAN).

Journal: Stem cell research

Published: February 17, 2026

The Clinical and Genetic Landscape of a French Multicenter Cohort of 2563 Epilepsy Patients Referred for Genetic Diagnosis.

The Clinical and Genetic Landscape of a French Multicenter Cohort of 2563 Epilepsy Patients Referred for Genetic Diagnosis.

Journal: European journal of neurology

Published: April 22, 2025

Exome sequencing of ATP1A3-negative cases of alternating hemiplegia of childhood reveals SCN2A as a novel causative gene.

Exome sequencing of ATP1A3-negative cases of alternating hemiplegia of childhood reveals SCN2A as a novel causative gene.

Journal: European journal of human genetics : EJHG

Published: August 01, 2023

Abnormalities of the corpus callosum. Can prenatal imaging predict the genetic status? Correlations between imaging phenotype and genotype.

Abnormalities of the corpus callosum. Can prenatal imaging predict the genetic status? Correlations between imaging phenotype and genotype.

Journal: Prenatal diagnosis

Published: December 21, 2022

The French Version of the DABS: Adaptation Process and Preliminary Field Test.

The French Version of the DABS: Adaptation Process and Preliminary Field Test.

Journal: American journal on intellectual and developmental disabilities

Published: March 04, 2022

STAG2 microduplication in a patient with eyelid myoclonia and absences and a review of EMA-related reported genes.

STAG2 microduplication in a patient with eyelid myoclonia and absences and a review of EMA-related reported genes.

Journal: European journal of medical genetics

Published: May 16, 2021

CACNA1A-associated epilepsy: Electroclinical findings and treatment response on seizures in 18 patients.

CACNA1A-associated epilepsy: Electroclinical findings and treatment response on seizures in 18 patients.

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

Published: January 18, 2021

Early-onset epileptic encephalopathy with migrating focal seizures associated with a FARS2 homozygous nonsense variant.

Early-onset epileptic encephalopathy with migrating focal seizures associated with a FARS2 homozygous nonsense variant.

Journal: Epileptic disorders : international epilepsy journal with videotape

Published: June 30, 2020

KCNT1-related epilepsies and epileptic encephalopathies: phenotypic and mutational spectrum.

KCNT1-related epilepsies and epileptic encephalopathies: phenotypic and mutational spectrum.

Journal: Brain : a journal of neurology

Published: March 21, 2020

Prenatal exome sequencing in 65 fetuses with abnormality of the corpus callosum: contribution to further diagnostic delineation.

Prenatal exome sequencing in 65 fetuses with abnormality of the corpus callosum: contribution to further diagnostic delineation.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: January 11, 2020

Asparagine synthetase deficiency: A novel case with an unusual molecular mechanism.

Asparagine synthetase deficiency: A novel case with an unusual molecular mechanism.

Journal: Molecular genetics and metabolism reports

Published: July 15, 2019

Movement disorders in patients with alternating hemiplegia: "Soft" and "stiff" at the same time.

Movement disorders in patients with alternating hemiplegia: "Soft" and "stiff" at the same time.

Journal: Neurology

Published: May 24, 2019

Showing 1-12 of 17

Last Updated: 09/26/2026