Vincent Des Portes

Faculté De Médecine Lyon Est
Lyon, France

Last Updated: 09/26/2026

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Found 83 publications

Circulating levels of ghrelin and hyperphagia in patients with rare genetic neurodevelopmental disorders.

Circulating levels of ghrelin and hyperphagia in patients with rare genetic neurodevelopmental disorders.

Journal: The Journal of clinical endocrinology and metabolism

Published: December 08, 2025

Circulating levels of ghrelin and hyperphagia in patients with rare genetic neurodevelopmental disorders.

Circulating levels of ghrelin and hyperphagia in patients with rare genetic neurodevelopmental disorders.

Journal: The Journal of clinical endocrinology and metabolism

Published: December 08, 2025

Prominent U-waves without QT prolongation in X-linked creatine transporter deficiency caused by SLC6A8 variants.

Prominent U-waves without QT prolongation in X-linked creatine transporter deficiency caused by SLC6A8 variants.

Journal: Heart rhythm

Published: July 15, 2025

An international questionnaire highlights and supports the case for including girls in Creatine Transporter Deficiency research.

An international questionnaire highlights and supports the case for including girls in Creatine Transporter Deficiency research.

Journal: Frontiers in neuroscience

Published: April 29, 2025

A large cohort study of prenatal exome sequencing redefines diagnosis in fetal corpus callosum anomalies.

A large cohort study of prenatal exome sequencing redefines diagnosis in fetal corpus callosum anomalies.

Journal: Brain : a journal of neurology

Published: December 31, 2024

STARDEV Study: Neurodevelopmental Trajectory and Long-Term Outcomes of Patients with Startle Disease/Hyperekplexia.

STARDEV Study: Neurodevelopmental Trajectory and Long-Term Outcomes of Patients with Startle Disease/Hyperekplexia.

Journal: Movement disorders clinical practice

Published: October 18, 2024

Clinical Characteristics, Developmental Trajectory, and Caregiver Burden of Patients With Creatine Transporter Deficiency (SLC6A8).

Clinical Characteristics, Developmental Trajectory, and Caregiver Burden of Patients With Creatine Transporter Deficiency (SLC6A8).

Journal: Neurology

Published: March 26, 2024

Anxiety, concerns and COVID-19: Cross-country perspectives from families and individuals with neurodevelopmental conditions.

Anxiety, concerns and COVID-19: Cross-country perspectives from families and individuals with neurodevelopmental conditions.

Journal: Journal of global health

Published: July 27, 2023

Antiseizure effect of MEK inhibitor in a child with neurofibromatosis type 1-Developmental and epileptic encephalopathy and optic pathway glioma.

Antiseizure effect of MEK inhibitor in a child with neurofibromatosis type 1-Developmental and epileptic encephalopathy and optic pathway glioma.

Journal: Epileptic disorders : international epilepsy journal with videotape

Published: July 23, 2023

GRIN1 variants associated with neurodevelopmental disorders reveal channel gating pathomechanisms.

GRIN1 variants associated with neurodevelopmental disorders reveal channel gating pathomechanisms.

Journal: Epilepsia

Published: July 19, 2023

Further characterisation of ARX-related disorders in females due to inherited or de novo variants.

Further characterisation of ARX-related disorders in females due to inherited or de novo variants.

Journal: Journal of medical genetics

Published: February 09, 2023

« Certain » and « probable » shaken baby syndrome according to the HAS diagnostic criteria: a different neurological prognosis?

« Certain » and « probable » shaken baby syndrome according to the HAS diagnostic criteria: a different neurological prognosis?

Journal: Archives de pediatrie : organe officiel de la Societe francaise de pediatrie

Published: November 03, 2022

Showing 1-12 of 83

Last Updated: 09/26/2026