Associated Papers
Clinically Relevant Genes Identified in Cerebral Palsy Cohorts Following Evaluation of the Clinical Description and Phenotype: A Systematic Review.
Wilson YA et al.
Journal of Child Neurology, 2024
39246294 (PubMed )
Supplement: sj-xlsx-2-jcn-10.1177_08830738241277231.xlsx › eTable_4
Evaluation of the Patients with the Diagnosis of Pontocerebellar Hypoplasia: A Multicenter National Study.
Cavusoglu D et al.
Cerebellum (london, England), 2024
Two heterozygous mutations in the calcium/calmodulin-dependent serine protein kinase gene (CASK) in cases with developmental disorders.
Yang K et al.
Molecular Genetics & Genomic Medicine, 2022
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
Refining the mutational spectrum and gene-phenotype correlates in pontocerebellar hypoplasia: results of a multicentric study.
Nuovo S et al.
Journal of Medical Genetics, 2022
Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.
Zhang Y et al.
Molecular Neurobiology, 2021
33860439 (PubMed )
Supplement: 12035_2021_2377_MOESM8_ESM.xlsx › Validated_mutations
CASK related disorder: Epilepsy and developmental outcome.
Giacomini T et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2021
Survival of a male patient harboring CASK Arg27Ter mutation to adolescence.
Mukherjee K et al.
Molecular Genetics & Genomic Medicine, 2020
A novel CASK mutation identified in siblings exhibiting developmental disorders with/without microcephaly.
Seto T et al.
Intractable & Rare Diseases Research, 2017
Late-onset epileptic spasms in a female patient with a CASK mutation.
Nakajiri T et al.
Brain & Development, 2015
A novel mutation in the promoter of RARS2 causes pontocerebellar hypoplasia in two siblings.
Li Z et al.
Journal of Human Genetics, 2015
The genetic landscape of infantile spasms.
Michaud JL et al.
Human Molecular Genetics, 2014
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