Genome sequencing identifies rare tandem repeat expansions and copy number variants in Lennox–Gastaut syndrome

Epilepsies are a group of common neurological disorders with a substantial genetic basis. Despite this, the molecular diagnosis of epilepsies remains challenging due to its heterogeneity. Studies utilizing whole-genome sequencing may provide additional insights into genetic causes of epilepsies of u...

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Detalles Bibliográficos
Autores principales: Qaiser, Farah, Sadoway, Tara, Yin, Yue, Zulfiqar Ali, Quratulain, Nguyen, Charlotte M, Shum, Natalie, Backstrom, Ian, Marques, Paula T, Tabarestani, Sepideh, Munhoz, Renato P, Krings, Timo, Pearson, Christopher E, Yuen, Ryan K C, Andrade, Danielle M
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2021
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8491034/
https://www.ncbi.nlm.nih.gov/pubmed/34622207
http://dx.doi.org/10.1093/braincomms/fcab207

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