ReviewBMC medical genomics2021
CNKSR2-related neurodevelopmental and epilepsy disorder: a cohort of 13 new families and literature review indicating a predominance of loss of function pathogenic variants.
Review in BMC medical genomics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed, 20 citations in OpenAlex.
- Identification and structural characterisation of a novel mutation in the CNKSR2 gene associated with Houge-Type X-Linked Intellectual Developmental Disorder.Journal of human genetics · 2026Article
- [Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences · 2026Review
- Identification of Houge type of X-linked syndromic mental retardation caused by CNKSR2 truncated variants.Italian journal of pediatrics · 2025Article
- Predicting progression from SeLECTS with SWAS to EE-SWAS: risk factor identification and model development.Frontiers in human neuroscience · 2025Article
- Genome Sequencing Identifies 13 Novel Candidate Risk Genes for Autism Spectrum Disorder in a Qatari Cohort.International journal of molecular sciences · 2024Article
- Sensor-Based and Visual Behavioral Profiling of Dry Holstein Cows Presenting Distinct Median Core Body Temperatures.Animals : an open access journal from MDPI · 2024Article
- Continuous Spike-Waves during Slow Sleep Today: An Update.Children (Basel, Switzerland) · 2024Review
- Evaluation of input data modality choices on functional gene embeddings.NAR genomics and bioinformatics · 2023Article
- CNK2 promotes cancer cell motility by mediating ARF6 activation downstream of AXL signalling.Nature communications · 2023Article
- Review
- Case report: Phenotype expansion and analysis ofFrontiers in neurology · 2022Article
Corrections and comments
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Authors and funding
6 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundPathogenic variants in connector enhancer of kinase suppressor of Ras-2 (CNKSR2) located on the X chromosome (Xp22.12) lead to a disorder characterized by developmental delay and a characteristic seizure phenotype. To date, 20 affected males representing 13 different pathogenic variants have been published. CASE PRESENTATION: We identified an 8-year-old male with seizures, abnormal electroencephalogram (EEG) with epileptiform abnormalities in the right hemisphere, and developmental delay with notable loss of speech following seizure onset. Additional concerns include multiple nighttime awakenings, hyperactivity, and autism spectrum disorder. Genetic testing identified a de novo pathogenic nonsense variant in CNKSR2. Through an active family support group, an additional 12 males are described, each harboring a different CNKSR2 variant. The clinical presentation and natural history consistently show early developmental delay, sleep disturbances, and seizure onset in childhood that is initially intractable but later becomes better controlled. Virtually all of the pathogenic variants are predicted to be loss of function, including genomic deletions, nonsense variants, splice site mutations, and small insertions or deletions.
conclusionsThis expanded knowledge, combined with functional studies and work with animal models currently underway, will enable a better understanding and improved ability to care for individuals with CNKSR2-related neurodevelopmental and epilepsy disorder.
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