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Publications by Eric Leguern

A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy

American Journal of Human Genetics

English

Correction To: The Landscape of Epilepsy-Related GATOR1 Variants

Genetics in Medicine

English

Involvement of GATOR Complex Genes in Familial Focal Epilepsies and Focal Cortical Dysplasia

English

NovelGABRG2mutations Cause Familial Febrile Seizures

Neurology: Genetics

English

Genome-Wide High-Resolution aCGH Analysis of Gestational Choriocarcinomas

Multidisciplinary

English

Pitfalls in Genetic Testing: The Story of missedSCN1Amutations

Molecular genetics & genomic medicine

Molecular Biology

English