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Copy Number Variation and epilepsy: state of the art in the era of high throughput sequencing, a multicenter cohort study

2024; Elsevier BV; Volume: 159; Linguagem: Inglês

10.1016/j.pediatrneurol.2024.07.007

1873-5150

Sarah Baer, Audrey Schalk, Marguerite Miguet, Élise Schaefer, Salima El Chehadeh, Emmanuelle Ginglinger, Anne de Saint Martin, Marie‐Thérèse Abi Wardé, Vincent Laugel, Yvan de Féraudy, Lucas Gauer, Édouard Hirsch, Clotilde Boulay, Claire Bansept, Anamaria Bolocan, Ismini Kitadinis, Aurélie Gouronc, Bénédicte Gérard, Amélie Piton, Sophie Scheidecker,

Epilepsy research and treatment

Genetic epilepsy diagnosis is increasing due to technological advancements. Although the use of molecular diagnosis is increasing, chromosomal microarray analysis (CMA) remains an important diagnostic tool for many patients. We aim to explore the role and indications of CMA in epilepsy, given the current genomic advances.