Diane Doummar

Paris, France

Last Updated: 09/26/2026

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Found 101 publications

Burst-Suppression EEG in Early Infantile Developmental and Epileptic Encephalopathies: Phenotype, Genotype, and Outcome.

Burst-Suppression EEG in Early Infantile Developmental and Epileptic Encephalopathies: Phenotype, Genotype, and Outcome.

Journal: Neurology

Published: May 26, 2026

Distinct Brain Drivers and Shared Cerebello-Cortical Input in ADCY5 and SGCE Hyperkinetic Movements.

Distinct Brain Drivers and Shared Cerebello-Cortical Input in ADCY5 and SGCE Hyperkinetic Movements.

Journal: Movement disorders : official journal of the Movement Disorder Society

Published: February 09, 2026

Highlighting the value of polymyography in childhood onset movement disorders.

Highlighting the value of polymyography in childhood onset movement disorders.

Journal: Frontiers in neurology

Published: December 19, 2025

Bilateral Globus Pallidus Deep Brain Stimulation Improves Motor Function in ADCY5-Related Disorder.

Bilateral Globus Pallidus Deep Brain Stimulation Improves Motor Function in ADCY5-Related Disorder.

Journal: Movement disorders : official journal of the Movement Disorder Society

Published: October 18, 2025

Psychiatric Disorders and Apathy in Mixed Movement Disorders Linked to ADCY5 (MxMD-ADCY5).

Psychiatric Disorders and Apathy in Mixed Movement Disorders Linked to ADCY5 (MxMD-ADCY5).

Journal: Movement disorders : official journal of the Movement Disorder Society

Published: October 10, 2025

International Registry of NKX2-1-Related Disorders: Clinical, Genetic, and Imaging Perspectives.

International Registry of NKX2-1-Related Disorders: Clinical, Genetic, and Imaging Perspectives.

Journal: Movement disorders : official journal of the Movement Disorder Society

Published: September 03, 2025

Missense Variants in the A Isoform of FGF13 as a Novel Cause of Paroxysmal Dyskinesia.

Missense Variants in the A Isoform of FGF13 as a Novel Cause of Paroxysmal Dyskinesia.

Journal: Movement disorders : official journal of the Movement Disorder Society

Published: July 28, 2025

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

KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation.

KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation.

Journal: ArXiv

Published: February 24, 2025

Atypical ADCY5-related movement disorders: Highlighting adolescent/adult-onset cervical dystonia.

Atypical ADCY5-related movement disorders: Highlighting adolescent/adult-onset cervical dystonia.

Journal: Parkinsonism & related disorders

Published: November 09, 2024

Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function.

Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function.

Journal: Nature genetics

Published: June 16, 2024

Dyskinetic crisis in GNAO1-related disorders: clinical perspectives and management strategies.

Dyskinetic crisis in GNAO1-related disorders: clinical perspectives and management strategies.

Journal: Frontiers in neurology

Published: March 19, 2024

Showing 1-12 of 101

Last Updated: 09/26/2026