Publications by authors named "Eric LeGuern"

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The genetic landscape of frontotemporal lobar degeneration: investigation of a diagnostic cohort of 2747 probands.
Guillaume Cogan, Marion Houot, Julie Bogoin, Sandrine Noël, Kathy Larcher, Eric LeGuern

Brain· November 2025

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Should ITSN1 be considered as a Mendelian Parkinson's disease gene? Description of three novel families.
Guillaume Cogan, Christelle Tesson, Lisa Welment, Fabienne Clot, Eric LeGuern

NPJ Parkinsons Dis· October 2025

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Systematic analysis of snRNA genes reveals frequent variants in dominant and recessive developmental and epileptic encephalopathies.
Elsa Leitão, Amandine Santini, Benjamin Cogne, Myriam Essid, Maria Athanasiadou, Eric Leguern

medRxiv· September 2025

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The Clinical and Genetic Landscape of a French Multicenter Cohort of 2563 Epilepsy Patients Referred for Genetic Diagnosis.
Jean-Madeleine de Sainte Agathe, Pauline Monin, Florence Riccardi, Caroline Nava, Lionel Arnaud, Éric Leguern

Eur J Neurol· August 2025

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Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption.
Caroline Nava, Benjamin Cogne, Amandine Santini, Elsa Leitão, François Lecoquierre, Eric Leguern

Nat Genet· June 2025

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Polygenic risk score to the rescue of monogenic diseases? The case of epilepsy.
Jean-Madeleine De Sainte Agathe, Eric Leguern

EBioMedicine· January 2025

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Genetic heterogeneity in familial forms of genetic generalized epilepsy: from mono- to oligogenism.
Maha Dahawi, Jean-Madeleine de Sainte Agathe, Mohamed S Elmagzoub, Elhami A Ahmed, Julien Buratti, Eric Leguern

Hum Genomics· November 2024

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Genetic Insights Into Hypothalamic Hamartoma: Unraveling Somatic Variants.
Lina Sami, Mathilde Chipaux, Sarah Ferrand-Sorbets, Marion Doladilhe, Christine Bulteau, Eric Leguern

Neurol Genet· October 2024

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Long-Read Sequencing Unravels the Complexity of Structural Variants in PRKN in Two Individuals with Early-Onset Parkinson's Disease.
Guillaume Cogan, Kensuke Daida, Kimberley J Billingsley, Christelle Tesson, Sylvie Forlani, Eric LeGuern

Mov Disord· September 2024

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Long-read sequencing unravels the complexity of structural variants in in two individuals with early-onset Parkinson's disease.
Guillaume Cogan, Kensuke Daida, Kimberley J Billingsley, Christelle Tesson, Sylvie Forlani, Eric LeGuern

medRxiv· May 2024

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Machado-Joseph disease in a Sudanese family links East Africa to Portuguese families and allows reestimation of ancestral age of the Machado lineage.
Sandra Martins, Ashraf Yahia, Inês P D Costa, Hassab E Siddig, Rayan Abubaker, Eric Leguern

Hum Genet· December 2023

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-related disorder: phenotypic and molecular spectrum.
Jean-Madeleine de Sainte Agathe, Ben Pode-Shakked, Sophie Naudion, Vincent Michaud, Benoit Arveiler, Eric LeGuern

J Med Genet· October 2023

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Patients with -related intellectual disability without distinctive features of Zimmermann-Laband/Temple-Baraitser syndrome.
Marion Aubert Mucca, Olivier Patat, Sandra Whalen, Lionel Arnaud, Giulia Barcia, Eric Leguern

J Med Genet· May 2022

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Clinical and genetic spectra of 1550 index patients with hereditary spastic paraplegia.
Jean-Loup Méreaux, Guillaume Banneau, Mélanie Papin, Giulia Coarelli, Rémi Valter, Eric Leguern

Brain· April 2022

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The EPIGENE network: A French initiative to harmonize and improve the nationwide diagnosis of monogenic epilepsies.
Lionel Arnaud, Marie-Thérèse Abi Warde, Giulia Barcia, Julitta de Bellescize, Nicolas Chatron, Eric Leguern

Eur J Med Genet· March 2022

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Major intra-familial variability in Unverricht-Lundborg disease.
Amina Nasri, Sabrina Zidi, Imen Kacem, Saloua Mrabet, Mouna Ben Djebara, Eric Leguern

Epileptic Disord· February 2022

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GM3 synthase deficiency in non-Amish patients.
Solveig Heide, Marie-Line Jacquemont, David Cheillan, Michel Renouil, Marilyn Tallot, Eric LeGuern

Genet Med· February 2022

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A National French Consensus on Gene List for the Diagnosis of Charcot-Marie-Tooth Disease and Related Disorders Using Next-Generation Sequencing.
Thibaut Benquey, Emmanuelle Pion, Mireille Cossée, Martin Krahn, Tanya Stojkovic, Eric Leguern

Genes (Basel)· February 2022

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Involvement of Gene in Familial Forms of Genetic Generalized Epilepsy.
Maha Dahawi, Mohamed S Elmagzoub, Elhami A Ahmed, Sara Baldassari, Guillaume Achaz, Eric Leguern

Front Neurol· October 2021

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Impact of a frequent nearsplice variant in amyotrophic lateral sclerosis: optimising genetic screening for gene therapy opportunities.
François Muratet, Elisa Teyssou, Aude Chiot, Séverine Boillée, Christian S Lobsiger, Eric Leguern

J Neurol Neurosurg Psychiatry· September 2021

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Evidence of mosaicism in SPAST variant carriers in four French families.
Chloé Angelini, Cyril Goizet, Samia Ait Said, William Camu, Christel Depienne, Eric Leguern

Eur J Hum Genet· July 2021

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SCN1A-related epilepsy with recessive inheritance: Two further families.
Raffaella Moretti, Lionel Arnaud, Delphine Bouteiller, Oriane Trouillard, Patricia Moreau, Eric Leguern

Eur J Paediatr Neurol· July 2021

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Expanding the Spectrum of AP5Z1-Related Hereditary Spastic Paraplegia (HSP-SPG48): A Multicenter Study on a Rare Disease.
Marianthi Breza, Jennifer Hirst, Viorica Chelban, Guillaume Banneau, Laurène Tissier, Eric LeGuern

Mov Disord· April 2021

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RNF170-Related Hereditary Spastic Paraplegia: Confirmation by a Novel Mutation.
Jean-Madeleine de Sainte Agathe, Sandra Mercier, Jean-Yves Mahé, Yann Péréon, Julien Buratti, Éric Leguern

Mov Disord· March 2021

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Genetic screening of ANXA11 revealed novel mutations linked to amyotrophic lateral sclerosis.
Elisa Teyssou, François Muratet, Maria-Del-Mar Amador, Mélanie Ferrien, Géraldine Lautrette, Eric Leguern

Neurobiol Aging· March 2021

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