ArticleDevelopmental medicine and child neurology2023
Exome sequencing for patients with developmental and epileptic encephalopathies in clinical practice.
Article in Developmental medicine and child neurology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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Who cites it
20 citing papers in PubMed.
- Reversal of refractory epilepsy in an adult with GAMT deficiency: A case report and comparative literature review.Epilepsia open · 2026Article
- Associations of Cortical and Subcortical White Matter Morphometric Abnormalities With Clinical and Genetic Findings inNeurology. Genetics · 2026Article
- Epileptic-Dyskinetic Encephalopathy Associated with a PPP3CA Variant: Expansion of the Phenotypic Spectrum.Movement disorders clinical practice · 2026Article
- Personalized care of paediatric drug-resistant epilepsy in Africa: A single-centre pilot study utilizing mobile health and genetic testing.Developmental medicine and child neurology · 2026Observational
- Clinical whole genome sequencing in pediatric epilepsy: Genetic and phenotypic spectrum of 733 individuals.Epilepsia · 2025Article
- Aetiopathogenesis of infantile epileptic spasms syndrome and mechanisms of action of adrenocorticotrophin hormone/corticosteroids in children: A scoping review.Developmental medicine and child neurology · 2025Article
- Monogenic Epilepsies in Adult Epilepsy Clinics and Gene-Driven Approaches to Treatment.Current neurology and neuroscience reports · 2025Review
- Advances in genetic developmental and epileptic encephalopathies with movement disorders.Acta epileptologica · 2025Review
- GABAJournal of neurochemistry · 2024Review
- A case of CDKL5 deficiency disorder with a novel intragenic multi-exonic duplication.Human genome variation · 2024Article
- Diagnostic utility of DNA methylation analysis in genetically unsolved pediatric epilepsies and CHD2 episignature refinement.Nature communications · 2024Article
- Review
- Movement Disorders in Patients With Genetic Developmental and Epileptic Encephalopathies.Neurology · 2023Article
- Evaluation of the feasibility, diagnostic yield, and clinical utility of rapid genome sequencing in infantile epilepsy (Gene-STEPS): an international, multicentre, pilot cohort study.The Lancet. Neurology · 2023Article
- Paroxysmal Tonic Upward Gaze: A Clinical Clue for CACNA1A-Related Disorders.Movement disorders clinical practice · 2023Article
- Technological and computational approaches to detect somatic mosaicism in epilepsy.Neurobiology of disease · 2023Review
- WWOX developmental and epileptic encephalopathy: Understanding the epileptology and the mortality risk.Epilepsia · 2023Article
- Australian Genomics: Outcomes of a 5-year national program to accelerate the integration of genomics in healthcare.American journal of human genetics · 2023Review
- Cation leak: a common functional defect causingBrain communications · 2023Article
- Exome sequencing for patients with developmental and epileptic encephalopathies in clinical practice.Developmental medicine and child neurology · 2023Article
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Authors and funding
10 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
aimTo assess the clinical utility of exome sequencing for patients with developmental and epileptic encephalopathies (DEEs).
methodOver 2 years, patients with DEEs were recruited for singleton exome sequencing. Parental segregation was performed where indicated.
resultsOf the 103 patients recruited (54 males, 49 females; aged 2 weeks-17 years), the genetic aetiology was identified in 36 out of 103 (35%) with management implications in 13 out of 36. Exome sequencing revealed pathogenic or likely pathogenic variants in 30 out of 103 (29%) patients, variants of unknown significance in 39 out of 103 (38%), and 34 out of 103 (33%) were negative on exome analysis. After the description of new genetic diseases, a molecular diagnosis was subsequently made for six patients or through newly available high-density chromosomal microarray testing.
interpretationWe demonstrate the utility of exome sequencing in routine clinical care of children with DEEs. We highlight that molecular diagnosis often leads to changes in management and informs accurate prognostic and reproductive counselling. Our findings reinforce the need for ongoing analysis of genomic data to identify the aetiology in patients in whom the cause is unknown. The implementation of genomic testing in the care of children with DEEs should become routine in clinical practice. WHAT THIS PAPER ADDS: The cause was identified in 35% of patients with developmental and epileptic encephalopathies. KCNQ2, CDKL5, SCN1A, and STXBP1 were the most frequently identified genes. Reanalysis of genomic data found the cause in an additional six patients. Genetic aetiology was identified in 41% of children with seizure onset under 2 years, compared to 18% with older onset. Finding the molecular cause led to management changes in 36% of patients with DEEs.
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