2026-06-28T04:44:42Zhttps://docta.ucm.es/rest/oai/requestoai:docta.ucm.es:20.500.14352/717382024-09-24T13:38:35Zcom_20.500.14352_14col_20.500.14352_15
Docta Complutense
author
Mayo, Sonia
author
Gómez Manjón, Irene
author
Fernández Martínez, Francisco Javier
author
Camacho Salas, Ana
author
Martínez, Francisco
author
Benito León, Julián
2023-06-22T10:49:39Z
2023-06-22T10:49:39Z
2022-04-28
Mayo S, Gómez-Manjón I, Fernández-Martínez FJ, Camacho A, Martínez F, Benito-León J. CfDNA Measurement as a Diagnostic Tool for the Detection of Brain Somatic Mutations in Refractory Epilepsy. IJMS 2022;23:4879. https://doi.org/10.3390/ijms23094879.
1422-0067
10.3390/ijms23094879
https://hdl.handle.net/20.500.14352/71738
https://doi.org/10.3390/ijms23094879
https://www.mdpi.com/1422-0067/23/9/4879/htm
Epilepsy is a neurological disorder that affects more than 50 million people. Its etiology is unknown in approximately 60% of cases, although the existence of a genetic factor is estimated in about 75% of these individuals. Hundreds of genes involved in epilepsy are known, and their number is increasing progressively, especially with next-generation sequencing techniques. However, there are still many cases in which the results of these molecular studies do not fully explain the phenotype of the patients. Somatic mutations specific to brain tissue could contribute to the phenotypic spectrum of epilepsy. Undetectable in the genomic DNA of blood cells, these alterations can be identified in cell-free DNA (cfDNA). We aim to review the current literature regarding the detection of somatic variants in cfDNA to diagnose refractory epilepsy, highlighting novel research directions and suggesting further studies.
eng
Atribución 3.0 España
CfDNA Measurement as a Diagnostic Tool for the Detection of Brain Somatic Mutations in Refractory Epilepsy
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ijms-23-04879-v2.pdf
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