Eric Leguern

Paris, France

Last Updated: 09/26/2026

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Found 80 publications

Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.

Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.

Journal: medRxiv : the preprint server for health sciences

Published: September 15, 2025

Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.

Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.

Journal: Nature genetics

Published: September 02, 2025

The genetic landscape of frontotemporal lobar degeneration: investigation of a diagnostic cohort of 2747 probands.

The genetic landscape of frontotemporal lobar degeneration: investigation of a diagnostic cohort of 2747 probands.

Journal: Brain : a journal of neurology

Published: July 02, 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

Should ITSN1 be considered as a Mendelian Parkinson's disease gene? Description of three novel families.

Should ITSN1 be considered as a Mendelian Parkinson's disease gene? Description of three novel families.

Journal: NPJ Parkinson's disease

Published: March 11, 2025

Polygenic risk score to the rescue of monogenic diseases? The case of epilepsy.

Polygenic risk score to the rescue of monogenic diseases? The case of epilepsy.

Journal: EBioMedicine

Published: December 03, 2024

Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption.

Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption.

Journal: Nature genetics

Published: October 02, 2024

Long-read sequencing unravels the complexity of structural variants in PRKN in two individuals with early-onset Parkinson's disease.

Long-read sequencing unravels the complexity of structural variants in PRKN in two individuals with early-onset Parkinson's disease.

Journal: medRxiv : the preprint server for health sciences

Published: May 15, 2024

Long-Read Sequencing Unravels the Complexity of Structural Variants in PRKN in Two Individuals with Early-Onset Parkinson's Disease.

Long-Read Sequencing Unravels the Complexity of Structural Variants in PRKN in Two Individuals with Early-Onset Parkinson's Disease.

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

Published: April 29, 2024

Genetic Insights Into Hypothalamic Hamartoma: Unraveling Somatic Variants.

Genetic Insights Into Hypothalamic Hamartoma: Unraveling Somatic Variants.

Journal: Neurology. Genetics

Published: April 17, 2024

Genetic heterogeneity in familial forms of genetic generalized epilepsy: from mono- to oligogenism.

Genetic heterogeneity in familial forms of genetic generalized epilepsy: from mono- to oligogenism.

Journal: Human genomics

Published: March 21, 2024

Machado-Joseph disease in a Sudanese family links East Africa to Portuguese families and allows reestimation of ancestral age of the Machado lineage.

Machado-Joseph disease in a Sudanese family links East Africa to Portuguese families and allows reestimation of ancestral age of the Machado lineage.

Journal: Human genetics

Published: August 24, 2023

Showing 1-12 of 80

Last Updated: 09/26/2026