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Epilepsy is one of the most common diseases of the central nervous system
Epilepsy is one of the most common diseases of the central nervous system
To assess the diagnostic value of genome sequencing for childhood epilepsy and provide genome sequencing-based insights into the molecular genetic mechanisms of epilepsy to help establish an accurate diagnosis, design appropriate treatments, and assist in genetic counseling, experts from Shenzhen Children's Hospital conducted a survey of 320 The genomes of two Chinese children with epilepsy were sequenced, and single-nucleotide variants and copy-number variants were interpreted in all samples, and the results were published in the journal Brain
The researchers established the complete pedigree and tracked the clinical data of the suspected patients
The researchers established the complete pedigree and tracked the clinical data of the suspected patients
Pathogenic/likely pathogenic variants were found in 117 (36.
Pathogenic/likely pathogenic variants were found in 117 (36.
Among the copy number variations, three were less than 25 kilobases in length
Distribution of Gene Variation in Epilepsy Patients of Different Ages
Distribution of Gene Variation in Epilepsy Patients of Different AgesAmong patients with onset within the first month of life, the diagnostic rate was 75.
Among patients with onset within the first month of life, the diagnostic rate was 75.
Taken together, genome sequencing provides a complete genetic diagnosis, enabling individualized treatment and genetic counseling for the patient's parents
references:
references:Genome sequence of 320 Chinese children with epilepsy: a clinical and molecular study, Brain, Volume 144, Issue 12, December 2021, Pages 3623–3634, https://doi.
Genome sequencing of 320 Chinese children with epilepsy: a clinical and molecular study, Brain, Volume 144, Issue 12, December 2021, Pages 3623–3634, https://doi.
org/10.
1093/brain/awab233 Genome sequencing of 320 Chinese children with epilepsy: a clinical and molecular study, leave a
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