Research & Literature

Phenotypic and molecular insights into CASK-related disorders in males.

Moog U, Bierhals T, Brand K, et al.

Orphanet journal of rare diseases 2015; (10()):44 doi:10.1186/s13023-015-0256-3.

Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.

Bachmann-Gagescu R, Dempsey JC, Phelps IG, et al.

Journal of medical genetics 2015; (52(8)):514-22 doi:10.1136/jmedgenet-2015-103087.

CASK stabilizes neurexin and links it to liprin-α in a neuronal activity-dependent manner.

LaConte LE, Chavan V, Liang C, et al.

Cellular and molecular life sciences : CMLS 2016; (73(18)):3599-621 doi:10.1007/s00018-016-2183-4.

X-linked intellectual disability gene CASK regulates postnatal brain growth in a non-cell autonomous manner.

Srivastava S, McMillan R, Willis J, et al.

Acta neuropathologica communications 2016; (4()):30 doi:10.1186/s40478-016-0295-6.

Both pharyngeal and esophageal phases of swallowing are associated with recurrent pneumonia in pediatric patients.

Serel Arslan S, Demir N, Karaduman AA

The clinical respiratory journal 2018; (12(2)):767-771 doi:10.1111/crj.12592.

A de novo splice site mutation in CASK causes FG syndrome-4 and congenital nystagmus.

Dunn P, Prigatano GP, Szelinger S, et al.

American journal of medical genetics. Part A 2017; (173(3)):611-617 doi:10.1002/ajmg.a.38069.

Comprehensive investigation of CASK mutations and other genetic etiologies in 41 patients with intellectual disability and microcephaly with pontine and cerebellar hypoplasia (MICPCH).

Hayashi S, Uehara DT, Tanimoto K, et al.

PloS one 2017; (12(8)):e0181791 doi:10.1371/journal.pone.0181791.

A novel CASK mutation identified in siblings exhibiting developmental disorders with/without microcephaly.

Seto T, Hamazaki T, Nishigaki S, et al.

Intractable & rare diseases research 2017; (6(3)):177-182 doi:10.5582/irdr.2017.01031.

A de novo in-frame deletion of CASK gene causes early onset infantile spasms and supratentorial cerebral malformation in a female patient.

Bozarth X, Foss K, Mefford HC

American journal of medical genetics. Part A 2018; (176(11)):2425-2429 doi:10.1002/ajmg.a.40429.

Pontocerebellar Hypoplasia: a Pattern Recognition Approach.

Rüsch CT, Bölsterli BK, Kottke R, et al.

Cerebellum (London, England) 2020; (19(4)):569-582 doi:10.1007/s12311-020-01135-5.

Survival of a male patient harboring CASK Arg27Ter mutation to adolescence.

Mukherjee K, Patel PA, Rajan DS, et al.

Molecular genetics & genomic medicine 2020; (8(10)):e1426 doi:10.1002/mgg3.1426.

Presynaptic dysfunction in CASK-related neurodevelopmental disorders.

Becker M, Mastropasqua F, Reising JP, et al.

Translational psychiatry 2020; (10(1)):312 doi:10.1038/s41398-020-00994-0.

Postnatal Brain Growth Patterns in Pontocerebellar Hypoplasia.

van Dijk T, Barth P, Baas F, et al.

Neuropediatrics 2021; (52(3)):163-169 doi:10.1055/s-0040-1716900.

The eldest case of MICPCH with CASK mutation exhibiting gross motor regression.

Nishio Y, Kidokoro H, Takeo T, et al.

Brain & development 2021; (43(3)):459-463 doi:10.1016/j.braindev.2020.11.007.

Diagnostic Approach to Cerebellar Hypoplasia.

Accogli A, Addour-Boudrahem N, Srour M

Cerebellum (London, England) 2021; (20(4)):631-658 doi:10.1007/s12311-020-01224-5.

Microcephaly, disproportionate pontine, and cerebellar hypoplasia syndrome: Two novel mutations in the CASK gene were discovered in Chinese females.

Zhao J, Hou M, Wang H, et al.

International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience 2021; (81(3)):277-284 doi:10.1002/jdn.10100.

CASK related disorder: Epilepsy and developmental outcome.

Giacomini T, Nuovo S, Zanni G, et al.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2021; (31()):61-69 doi:10.1016/j.ejpn.2021.02.006.

New VOUS in CASK Gene Correlating with the MICPCH Phenotype.

Shelby ES, Lupu OT, Axente M, et al.

Maedica 2021; (16(1)):135-139 doi:10.26574/maedica.2020.16.1.135.

Complete loss of the X-linked gene CASK causes severe cerebellar degeneration.

Patel PA, Hegert JV, Cristian I, et al.

Journal of medical genetics 2022; (59(11)):1044-1057 doi:10.1136/jmedgenet-2021-108115.

A novel missense variant in the CASK gene causes intellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia.

Wu S, Jiang C, Li J, et al.

BMC medical genomics 2022; (15(1)):127 doi:10.1186/s12920-022-01275-z.

Pathogenic variants in CASK: Expanding the genotype-phenotype correlations.

Dubbs H, Ortiz-Gonzalez X, Marsh ED

American journal of medical genetics. Part A 2022; (188(9)):2617-2626 doi:10.1002/ajmg.a.62863.

Case Report: Identification of a novel CASK missense variant in a Chinese family with MICPCH.

Zhang R, Jia P, Yao Y, Zhu F

Frontiers in genetics 2022; (13()):933785 doi:10.3389/fgene.2022.933785.

Expanding the natural history of CASK-related disorders to the prenatal period.

Gafner M, Boltshauser E, D'Abrusco F, et al.

Developmental medicine and child neurology 2023; (65(4)):544-550 doi:10.1111/dmcn.15419.

[Paediatric status epilepticus].

Soto-Insuga V, González-Alguacil E, García-Peñas JJ

Revista de neurologia 2022; (75(8)):225-238 doi:10.33588/rn.7508.2022196.

Dysphagia Management in Children: Implementation and Perspectives of Flexible Endoscopic Evaluation of Swallowing (FEES).

Printza A, Sdravou K, Triaridis S

Children (Basel, Switzerland) 2022; (9(12)) doi:10.3390/children9121857.

Structural Analysis Implicates CASK-Liprin-α2 Interaction in Cerebellar Granular Cell Death in MICPCH Syndrome.

Guo Q, Kouyama-Suzuki E, Shirai Y, et al.

Cells 2023; (12(8)) doi:10.3390/cells12081177.

Clinical feeding assessment: An effective screening test to predict aspiration in children in low resource settings.

Dahiya V, Picardo N, Thejesh R, et al.

Journal of pediatric rehabilitation medicine 2024; (17(2)):211-219 doi:10.3233/PRM-220052.

Clinical variants paired with phenotype: A rich resource for brain gene curation.

Chopra M, Savatt JM, Bingaman TI, et al.

Genetics in medicine : official journal of the American College of Medical Genetics 2024; (26(3)):101035 doi:10.1016/j.gim.2023.101035.

Novel characterization of CASK variant c.1963 A>G (p.Asn655Asp) through whole-exome sequencing in a monochorionic diamniotic twin fetus with significant brain anomalies: A case report.

Keller NA, Bracero LA, Kouba I, et al.

Case reports in women's health 2024; (41()):e00583 doi:10.1016/j.crwh.2024.e00583.

New insights into the clinical and molecular spectrum of the MADD-related neurodevelopmental disorder.

Abdel-Salam GMH, Abdel-Hamid MS

Journal of human genetics 2024; (69(6)):263-270 doi:10.1038/s10038-024-01236-7.

CASK pathogenic variant which expands the clinical spectrum for MICPCH syndrome in an adult patient.

Tellerday J, Black J, Schuessler DC, et al.

American journal of medical genetics. Part A 2024; (194(10)):e63722 doi:10.1002/ajmg.a.63722.

Evolving understanding of CP phenotypes: the importance of dystonia.

Lewis SA, Aravamuthan B, Fehlings D, Kruer MC

Pediatric research 2024; doi:10.1038/s41390-024-03327-9.

Dissecting CASK: Novel splice site variant associated with male MICPCH phenotype.

Silveira KC, Ambrose A, Athey T, et al.

Clinical genetics 2024; (106(6)):764-768 doi:10.1111/cge.14610.

Dysphagia is a strong predictor of revision supraglottoplasty in pediatric laryngomalacia.

Callaghan A, El-Hakim H, Adsett AR, et al.

International journal of pediatric otorhinolaryngology 2024; (186()):112115 doi:10.1016/j.ijporl.2024.112115.

Bone Mineral Density Screening in People With Epilepsy and Intellectual Disability.

Gandelman-Marton R, Theitler J

American journal on intellectual and developmental disabilities 2024; (129(6)):453-459 doi:10.1352/1944-7558-129.6.453.

Clinical use of ACQUIRE Therapy for Children Diagnosed With CASK-Gene Related Disabilities.

Wallace DA, Rebekah Trucks M, DeLuca SC

Advances in rehabilitation science and practice 2024; (13()):27536351241302852 doi:10.1177/27536351241302852.

The Competitive Loss of Cerebellar Granule and Purkinje Cells Driven by X-Linked Mosaicism in a Female Mouse Model of CASK-Related Disorders.

Mori T, Zhou M, Kunugitani K, et al.

Cells 2025; (14(10)) doi:10.3390/cells14100735.

[Management of tracheal foreign bodies].

Stecher L, Strasser V, Steinbichler TB

HNO 2025; (73(10)):735-744 doi:10.1007/s00106-025-01658-5.

The neurodevelopmental spectrum of CASK-related disorder.

Martin J, Mavrogalou-Foti A, Eck J, et al.

Journal of neurodevelopmental disorders 2025; (17(1)):60 doi:10.1186/s11689-025-09643-3.

Patient-Derived Variants Define Constraints for Ligand Binding at the PDZ Domain of CASK.

Tibbe D, Hönck HH, Bhatia N, et al.

Journal of neurochemistry 2025; (169(12)):e70303 doi:10.1111/jnc.70303.

Recommendations for the community-based management of prolonged convulsive seizures in children in Europe.

Vigevano F, Arzimanoglou A, Auvin S, et al.

BMC pediatrics 2026; (26(1)):135.

Gene Portals: A Framework for Integrating Clinical, Functional, and Structural Evidence into Rare Disease Variant Classification.

Brünger T, Krey I, Kim S, et al.

medRxiv : the preprint server for health sciences 2026; doi:10.64898/2026.03.05.26347086.

American Epilepsy Society Clinical Practice Guideline: Infantile Epilepsy.

Freedman D, Babatunde I, Morgan RL, et al.

Epilepsy currents 2026; (26(3)):174-202 doi:10.1177/15357597261433266.

Clinical and genetic spectrum of CASK-related disorders in Chinese patients.

Chen Y, Cao J, Li J, et al.

Journal of neurology 2026; (273(6)).

Intellectual Disability and Microcephaly With Pontine and Cerebellar Hypoplasia in Adults: Severity Spectrum and Diversity of the CASK Gene Aberrations.

Obara K, Abe E, Toyoshima I

Cureus 2026; (18(5)):e109777 doi:10.7759/cureus.109777.

Musculoskeletal Phenotypes of 19 Patients With X-Linked HNRNPH2-Related Neurodevelopmental Disorder: A Prospective Case Series.

Garcia A, Salazar R, Holuba N, et al.

American journal of medical genetics. Part A 2026; doi:10.1002/ajmg.a.70246.

Clinical heterogeneity and diagnostic challenges in CASK-related neurodevelopmental disorders: a longitudinal observational study.

Pacheva IH, Timova E, Todorov T, et al.

Frontiers in psychiatry 2026; (17()):1804756 doi:10.3389/fpsyt.2026.1804756.

Seizure Action Plans Beyond the Neurology Clinic: What Emergency, School, and Primary Care Teams Need to Know for Children With Epilepsy.

Lustig MC

Journal of child neurology 2026; 8830738261472511 doi:10.1177/08830738261472511.