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Solving the unsolved genetic epilepsies: Current and future perspectives
Katrine M Johannesen
, Zeynep Tümer
, Sarah Weckhuysen
, Tahsin Stefan Barakat
,
Allan Bayat
*
*
Corresponding author af dette arbejde
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Keyphrases
Genetic Epilepsy
100%
Exome
100%
Genome Sequencing
75%
Diagnostic Work-up
50%
Patients with Epilepsy
50%
Variants of Uncertain Significance
50%
Somatic Mosaicism
50%
Diagnostic Methods
25%
Illness
25%
Clinically Significant
25%
Transcriptomics
25%
Knowledge Increase
25%
Metabolomics
25%
Diagnostic Tool
25%
Genome Data
25%
Current Diagnostics
25%
Monogenic
25%
Diagnostic Ability
25%
Exome Sequencing
25%
Regulatory Elements
25%
DNA Methylation Signature
25%
Non-coding RNA (ncRNA)
25%
Structural Variants
25%
Reduced Penetrance
25%
Causative Gene
25%
Low-complexity Repeats
25%
Human Disorders
25%
Topologically Associating Domains
25%
Familial Segregation
25%
Knowledge Tools
25%
Structural Rearrangement
25%
Non-coding Genome
25%
Symptom Change
25%
Long-read Sequencing
25%
Complementary Diagnostic Test
25%
Precision Diagnosis
25%
Biochemistry, Genetics and Molecular Biology
Genetics
100%
Exome
100%
Genome Sequencing
75%
Mosaicism
50%
DNA Methylation
25%
Metabolomics
25%
Non-Coding RNA
25%
Transcriptomics
25%
Regulatory Element
25%
Penetrance
25%
Exome Sequencing
25%
Neuroscience
Somatics
100%
Mosaicism
100%
DNA Methylation
50%
Transcriptomics
50%
Non-Coding RNA
50%