Associated Papers
Dissecting CASK: Novel splice site variant associated with male MICPCH phenotype.
Silveira KC et al.
Clinical Genetics, 2024
A de novo variant in CASK gene causing intellectual disability and brain hypoplasia: a case report and literature review.
Zhang Y et al.
Italian Journal of Pediatrics, 2022
Structural Basis for the High-Affinity Interaction between CASK and Mint1.
Wu X et al.
Structure (london, England : 1993), 2020
A novel CASK mutation identified in siblings exhibiting developmental disorders with/without microcephaly.
Seto T et al.
Intractable & Rare Diseases Research, 2017
Phenotypic and molecular insights into CASK-related disorders in males.
Moog U et al.
Orphanet Journal of Rare Diseases, 2015
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.
Mort M et al.
Genome Biology, 2014
24451234 (PubMed )
Supplement: gb-2014-15-1-r19-S1.pdf
CASK aberrations in male patients with Ohtahara syndrome and cerebellar hypoplasia.
Saitsu H et al.
Epilepsia, 2012
Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient.
Burglen L et al.
Orphanet Journal of Rare Diseases, 2012
Novel intragenic duplications and mutations of CASK in patients with mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH).
Hayashi S et al.
Human Genetics, 2012
Liprin-mediated large signaling complex organization revealed by the liprin-α/CASK and liprin-α/liprin-β complex structures.
Wei Z et al.
Molecular Cell, 2011
Calcium/calmodulin-dependent serine protein kinase and mental retardation.
Hsueh YP
Annals of Neurology, 2009
A missense mutation in CASK causes FG syndrome in an Italian family.
Piluso G et al.
American Journal of Human Genetics, 2009
Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum.
Najm J et al.
Nature Genetics, 2008
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