Associated Papers
Identification of CNKSR2 Pathogenic Variant and Detection of Strong XCI in a Female Patient With Severe DEE-SWAS and Phenotype Expansion in Male Patients.
Katata Y et al.
Clinical Genetics, 2025
Novel Digital Anomalies, Hippocampal Atrophy, and Mutations Expand the Genotypic and Phenotypic Spectra of CNKSR2 in the Houge Type of X-Linked Syndromic Intellectual Development Disorder (MRXSHG).
Ghasemi MR et al.
American Journal of Medical Genetics. Part A, 2025
Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.
Laurie S et al.
Nature Medicine, 2025
39825153 (PubMed )
Supplement: 41591_2024_3420_MOESM3_ESM.xlsx › SuppTableS4.Disease_Causing
Hemizygous splicing variant in CNKSR2 results in X-linked intellectual developmental disorder.
Lou Y et al.
Molecular Genetics & Genomic Medicine, 2024
Functions of CNKSR2 and Its Association with Neurodevelopmental Disorders.
Ito H et al.
Cells, 2022
Cnksr2 Loss in Mice Leads to Increased Neural Activity and Behavioral Phenotypes of Epilepsy-Aphasia Syndrome.
Erata E et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2021
CNKSR2-related neurodevelopmental and epilepsy disorder: a cohort of 13 new families and literature review indicating a predominance of loss of function pathogenic variants.
Higa LA et al.
Bmc Medical Genomics, 2021
CNKSR2 gene mutation leads to Houge type of X-linked syndromic mental retardation: A case report and review of literature.
Kang Q et al.
Medicine, 2021
Psychomotor development and attention problems caused by a splicing variant of CNKSR2.
Zhang Y et al.
Bmc Medical Genomics, 2020
Exons deletion of CNKSR2 gene identified in X-linked syndromic intellectual disability.
Daoqi M et al.
Bmc Medical Genetics, 2020
A de novo variant in the X-linked gene CNKSR2 is associated with seizures and mild intellectual disability in a female patient.
Polla DL et al.
Molecular Genetics & Genomic Medicine, 2019
Genetic etiologies of the electrical status epilepticus during slow wave sleep: systematic review.
Kessi M et al.
Bmc Genetics, 2018
Frequency of CNKSR2 mutation in the X-linked epilepsy-aphasia spectrum.
Damiano JA et al.
Epilepsia, 2017
A Novel Neuroimaging Phenotype in the X-Linked Intellectual Disability with a Missense Mutation of CNKSR2 Gene.
Hosur B et al.
Neurology India, 0
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