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

A Complex Genomic Rearrangement Resulting in Loss of Function of <i>SCN1A</i> and <i>SCN2A</i> 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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Bibliographic Details
Main Authors: Valeria Orlando, Silvia Di Tommaso, Viola Alesi, Sara Loddo, Silvia Genovese, Giorgia Catino, Licia Martucci, Maria Cristina Roberti, Marina Trivisano, Maria Lisa Dentici, Nicola Specchio, Bruno Dallapiccola, Alessandro Ferretti, Antonio Novelli
Format: Article
Language:English
Published: MDPI AG 2022-10-01
Series:International Journal of Molecular Sciences
Subjects:
array CGH
CGR
complex genomic rearrangements
chromothripsis
cryptic rearrangement
OGM
Online Access:https://www.mdpi.com/1422-0067/23/21/12900

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https://www.mdpi.com/1422-0067/23/21/12900

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