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Frequent epileptic apnoea in a patient with Pitt-Hopkins syndrome Volume 22, issue 5, October 2020

  • [Amiel et al., 2007] Amiel J., Rio M., de Pontual L. Mutations in , encoding a class I basic helix-loop-helix transcription factor, are responsible for Pitt-Hopkins syndrome, a severe epileptic encephalopathy associated with autonomic dysfunction. Am J Hum Genet. 2007;80:988-993. TCF45
  • [de Pontual et al., 2003] de Pontual L., Népote V., Attié-Bitach T. Noradrenergic neuronal development is impaired by mutation of the proneural HASH-1 gene in congenital central hypoventilation syndrome (Ondine's curse). Hum Mol Genet. 2003;12:3173-3180. 23
  • [de Pontual et al., 2009] de Pontual L., Mathieu Y., Golzio C. Mutational, functional, and expression studies of the gene in Pitt-Hopkins syndrome. Hum Mutat. 2009;30:669-676. TCF44
  • [de Winter et al., 2016] de Winter C.F., Baas M., Bijlsma E.K., van Heukelingen J., Routledge S., Hennekam R.C. Phenotype and natural history in 101 individuals with Pitt-Hopkins syndrome through an internet questionnaire system. Orphanet J Rare Dis. 2016;11:37. 1
  • [Giurgea et al., 2008] Giurgea I., Missirian C., Cacciagli P. deletions in Pitt-Hopkins syndrome. Hum Mutat. 2008;29:E242-E251. TCF411
  • [Maini et al., 2012] Maini I., Cantalupo G., Turco E.C. Clinical and polygraphic improvement of breathing abnormalities after valproate in a case of Pitt-Hopkins syndrome. J Child Neurol. 2012;27:1585-1588. 12
  • [Marangi et al., 2012] Marangi G., Ricciardi S., Orteschi D. Proposal of a clinical score for the molecular test for Pitt-Hopkins syndrome. Am J Med Genet Part A. 2012;158A:1604-1611. 7
  • [Marangi and Zollino, 2015] Marangi G., Zollino M. Pitt-Hopkins syndrome and differential diagnosis: a molecular and clinical challenge. J Pediatr Genet. 2015;4:168-176. 3
  • [Motojima et al., 2018] Motojima T., Fujii K., Ohashi H., Arakawa H. Catathrenia in Pitt-Hopkins syndrome associated with 18q interstitial deletion. Pediatr Int. 2018;60:479-481. 5
  • [Negishi et al., 2017] Negishi Y., Miya F., Hattori A. A combination of genetic and biochemical analyses for the diagnosis of PI3K-AKT-mTOR pathway-associated megalencephaly. BMC Med Genet. 2017;18:4. 1
  • [Peippo et al., 2006] Peippo M.M., Simola K.O., Valanne L.K. Pitt-Hopkins syndrome in two patients and further definition of the phenotype. Clin Dysmorphol. 2006;15:47-54. 2
  • [Takano et al., 2010] Takano K., Lyons M., Moyes C., Jones J., Schwartz C.E. Two percent of patients suspected of having Angelman syndrome have TCF4 mutations. Clin Genet. 2010;78:282-288. 3
  • [Whalen et al., 2012] Whalen S., Heron D., Gaillon T. Novel comprehensive diagnostic strategy in Pitt-Hopkins syndrome: clinical score and further delineation of the TCF4 mutational spectrum. Hum Mutat. 2012;33:64-72. 1
  • [Zollino et al., 2019] Zollino M., Zweier C., Van Balkom I.D. Diagnosis and management in Pitt-Hopkins syndrome: First international consensus statement. Clin Genet. 2019;95:462-478. 4
  • [Zweier et al., 2007] Zweier C., Peippo M.M., Hoyer J. Haploinsufficiency of causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome). Am J Hum Genet. 2007;80:994-1001. TCF45