ArticleGenetics in medicine : official journal of the American College of Medical Genetics2021
The genetic landscape of intellectual disability and epilepsy in adults and the elderly: a systematic genetic work-up of 150 individuals.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers.
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Who cites it
30 citing papers in PubMed, 53 citations in OpenAlex.
- Genetic developmental and epileptic encephalopathies in adulthood: Gaps in evidence and care.Epilepsia open · 2026Review
- Genetic Diagnosis in Epilepsy: Implications for Clinical Management.Current neurology and neuroscience reports · 2026Review
- Diagnostic yield and copy number variants findings in 219 adult patients with developmental and epileptic encephalopathy.Epilepsia · 2026Article
- Insights into ANKRD11-related epilepsy from 163 people.Epilepsia · 2026Article
- Phenotype-guided etiologic workup in a prospective cohort of 144 adults with developmental and epileptic encephalopathy.Epilepsia open · 2026Article
- Antecedent enhancer activity predicts future susceptibility to seizures in mice.Nature communications · 2026Article
- Holistic Exome-Based Genetic Testing in Adults With Epilepsy.Neurology. Genetics · 2025Article
- Monogenic Epilepsies in Adult Epilepsy Clinics and Gene-Driven Approaches to Treatment.Current neurology and neuroscience reports · 2025Review
- Exome sequencing in Nigerian children with early-onset epilepsy syndromes.Epilepsia open · 2025Article
- Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study.European journal of human genetics : EJHG · 2024Article
- Experience of the first adult-focussed undiagnosed disease program in Australia (AHA-UDP): solving rare and puzzling genetic disorders is ageless.Orphanet journal of rare diseases · 2024Article
- Face-valid phenotypes in a mouse model of the most common mutation in EEF1A2-related neurodevelopmental disorder.Disease models & mechanisms · 2024Article
- CUX1-related neurodevelopmental disorder: deep insights into phenotype-genotype spectrum and underlying pathology.European journal of human genetics : EJHG · 2023Article
- Further advances in epilepsy.Journal of neurology · 2023Review
- Novel potentially pathogenic variants detected in genes causing intellectual disability and epilepsy in Polish families.Neurogenetics · 2023Article
- The phenotypic and genotypic spectrum of epilepsy and intellectual disability in adults: Implications for genetic testing.Epilepsia open · 2023Article
- Case report: Complete paternal isodisomy on chromosome 18 induces methylation changes inFrontiers in genetics · 2023Article
- The phenotypic presentation of adult individuals withFrontiers in neuroscience · 2023Article
- Epilepsy and genetics.Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V · 2022Article
- Monogenetic epilepsies and how to approach them in 2022.Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V · 2022Article
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Authors and funding
21 authors at 5 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeGenetic diagnostics of neurodevelopmental disorders with epilepsy (NDDE) are predominantly applied in children, thus limited information is available regarding adults or elderly.
methodsWe investigated 150 adult/elderly individuals with NDDE by conventional karyotyping, FMR1 testing, chromosomal microarray, panel sequencing, and for unresolved cases, also by exome sequencing (n
resultsWe identified (likely) pathogenic variants in 71 cases (47.3%) comprising fragile X syndrome (n = 1), disease-causing copy number (n = 23), and single-nucleotide variants (n = 49). Seven individuals displayed multiple independent genetic diagnoses. The diagnostic yield correlated with the severity of intellectual disability. Individuals with anecdotal evidence of exogenic early-life events (e.g., nuchal cord, complications at delivery) with alleged/unproven association to the disorder had a particularly high yield of 58.3%. Screening for disease-specific comorbidities was indicated in 45.1% and direct treatment consequences arose in 11.8% of diagnosed individuals.
conclusionPanel/exome sequencing displayed the highest yield and should be considered as first-tier diagnostics in NDDE. This high yield and the numerous indications for additional screening or treatment modifications arising from genetic diagnoses indicate a current medical undersupply of genetically undiagnosed adult/elderly individuals with NDDE. Moreover, knowledge of the course of elderly individuals will ultimately help in counseling newly diagnosed individuals with NDDE.
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