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. 2020 Sep 30;26(4):556-558.
doi: 10.5056/jnm20059.

Calcium/Calmodulin-dependent Serine Protein Kinase-associated Neuro-gastrointestinal Disorder: First Report of a Patient With Hirschsprung's Disease

Maoqiang Tian  1 , Hong Pan  2 , Wenting Lei  1 , Jing Chen  1 , Juan Li  1 , Changhui Lang  1 , Xiaomei Shu  1
Affiliations

Calcium/Calmodulin-dependent Serine Protein Kinase-associated Neuro-gastrointestinal Disorder: First Report of a Patient With Hirschsprung's Disease

Maoqiang Tian et al. J Neurogastroenterol Motil. .
No abstract available

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Conflict of interest statement

Conflicts of interest: None.

Figures

Figure 1
Figure 1
Abdominal radiographs showing significant bowel dilation with spasming of the distal colon (A, B). Electroencephalogram revealing a cluster of epileptic spasms (C).
Figure 2
Figure 2
Brain MRI scans showing mild (A) and severe (B) pontocerebellar hypoplasia. Sequencing electropherograms illustrating the calcium/calmodulin-dependent serine protein kinase mutation (C).
See this image and copyright information in PMC

References

    1. Tran VQ, Mahler T, Bontems P, et al. Interest of anorectal manometry during long-term follow-up of patients operated on for Hirschsprung's disease. J Neurogastroenterol Motil. 2018;24:70–78. doi: 10.5056/jnm17019. - DOI - PMC - PubMed
    1. Wang Q, Lu J, Yang C, et al. CASK and its target gene Reelin were co-upregulated in human esophageal carcinoma. Cancer Lett. 2002;179:71–77. doi: 10.1016/S0304-3835(01)00846-1. - DOI - PubMed
    1. Carvajal AE, Vázquez-Carretero MD, García-Miranda P, Peral MJ, Calonge ML, Ilundain AA. Reelin expression is up-regulated in mice colon in response to acute colitis and provides resistance against colitis. Biochim Biophys Acta Mol Basis Dis. 2017;1863:462–473. doi: 10.1016/j.bbadis.2016.11.028. - DOI - PubMed
    1. Moore SW, Maluleke T, El Hosny AA. Is Hirschsprung disease a purely neurological condition? A study of the Actin G2 smooth muscle gene in Hirschsprung disease. J Pediatr Surg. 2019;54:2028–2031. doi: 10.1016/j.jpedsurg.2019.01.069. - DOI - PubMed
    1. Cohen AR, Wood DF, Marfatia SM, Walther Z, Chishti AH, Anderson JM. Human CASK/LIN-2 binds syndecan-2 and protein 4.1 and localizes to the basolateral membrane of epithelial cells. J Cell Biol. 1998;142:129–138. doi: 10.1083/jcb.142.1.129. - DOI - PMC - PubMed

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