A Complex Genomic Rearrangement Resulting in Loss of Function of SCN1A and SCN2A in a Patient with Severe Developmental and Epileptic Encephalopathy

Complex genomic rearrangements (CGRs) are structural variants arising from two or more chromosomal breaks, which are challenging to characterize by conventional or molecular cytogenetic analysis (karyotype and FISH). The integrated approach of standard and genomic techniques, including optical genom...

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Detalles Bibliográficos
Autores principales: Orlando, Valeria, Di Tommaso, Silvia, Alesi, Viola, Loddo, Sara, Genovese, Silvia, Catino, Giorgia, Martucci, Licia, Roberti, Maria Cristina, Trivisano, Marina, Dentici, Maria Lisa, Specchio, Nicola, Dallapiccola, Bruno, Ferretti, Alessandro, Novelli, Antonio
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9656590/
https://www.ncbi.nlm.nih.gov/pubmed/36361691
http://dx.doi.org/10.3390/ijms232112900

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