ArticleFrontiers in molecular neuroscience2023
The genotype-phenotype correlations of the
Article in Frontiers in molecular neuroscience, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed.
- CACNA1A c.5610del in a three-generation family: epilepsy with ataxia/migraine.BMC neurology · 2026Article
- Human neuronal networks on micro-electrode arrays as a tool to assess genotype-phenotype correlation in CACNA1A-related disorders.Stem cell reports · 2026Article
- Adams-Oliver Syndrome Type 3: A Case Report of Concurrent RBPJ, CACNA1A, and Double-Heterozygous MTHFR Variants.Diagnostics (Basel, Switzerland) · 2026Article
- Extracellular matrix dysfunction and synaptic alterations in schizophrenia.Molecular psychiatry · 2026Article
- Shared Disease Mechanisms in Neurodevelopmental Disorders: A Cellular and Molecular Biology Perspective.Brain sciences · 2025Review
- Mitochondrial and lysosomal dysfunctions might be involved in the pathogenesis of the CACNA1A-related neurodevelopmental disorders according to in vitro studies.Biological research · 2025Article
- ZNRF3 in neurodevelopmental disorders: insights into Wnt signaling and therapeutic potential.Neurogenetics · 2025Review
- Polymorphisms inGenes · 2025Article
- CACNA1A loss-of-function affects neurogenesis in human iPSC-derived neural models.Cellular and molecular life sciences : CMLS · 2025Article
- Article
- Prolonged apnea in a boy with epilepsy and a novel gain-of-function missense CACNA1A variant indicating SUDEP risk.Frontiers in neurology · 2025Article
- Pin1 promotes human CaCell communication and signaling : CCS · 2024Article
- A Review of theDiseases (Basel, Switzerland) · 2024Review
- "Living with"Frontiers in neurology · 2024Article
- Intrafamilial neurological phenotypic variability due to either biallelic or monoallelic pathogenic variants inFrontiers in neurology · 2024Article
- Developing a pathway to clinical trials forTherapeutic advances in rare diseaseReview
Corrections and comments
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Authors and funding
7 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Background: Genotype-phenotype correlations of the Methods: Six children diagnosed with Results: Six patients were recruited from our hospital. Three cases presented with epilepsy, five with GDD/ID, five with ataxia, and two with ASD. The variants included p.G701R, p.R279C, p.D1644N, p.Y62C, p.L1422Sfs*8, and p. R1664Q [two gain-of-function (GOF) and four loss-of-function (LOF) variants]. About 187 individuals with GDD/ID harboring 123 variants were found (case series plus data from literature). Of those 123 variants, p.A713T and p.R1664* were recurrent, 37 were LOF, and 7 were GOF. GOF variants were linked with severe-profound GDD/ID while LOF variants were associated with mild-moderate GDD/ID ( Conclusion: The p.A713T variant is linked with severe-profound GDD/ID. More than half of
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.