Hostname: page-component-669899f699-2mbcq Total loading time: 0 Render date: 2025-04-26T20:19:42.584Z Has data issue: false hasContentIssue false
  • English
  • Français

Posterior Cranial Fossa Malformation and Vascular Dysplasia in GJB2 Gene Mutation

Published online by Cambridge University Press:  08 September 2023

Carlo Alberto Cesaroni Open the ORCID record for Carlo Alberto Cesaroni [Opens in a new window] ,
Manuela Napoli ,
Carlotta Spagnoli Open the ORCID record for Carlotta Spagnoli [Opens in a new window] ,
Susanna Rizzi ,
Daniele Frattini  and
Carlo Fusco
Carlo Alberto Cesaroni*
Affiliation:
Department of Pediatrics, Child Neurology Unit, Azienda USL-IRCCS Di Reggio Emilia, Reggio Emilia, Italy
Manuela Napoli
Affiliation:
Neuroradiology Unit, Azienda Unità Sanitaria Locale-IRCCS di Reggio Emilia, Reggio Emilia, Italy
Carlotta Spagnoli
Affiliation:
Department of Pediatrics, Child Neurology Unit, Azienda USL-IRCCS Di Reggio Emilia, Reggio Emilia, Italy
Susanna Rizzi
Affiliation:
Department of Pediatrics, Child Neurology Unit, Azienda USL-IRCCS Di Reggio Emilia, Reggio Emilia, Italy
Daniele Frattini
Affiliation:
Department of Pediatrics, Child Neurology Unit, Azienda USL-IRCCS Di Reggio Emilia, Reggio Emilia, Italy
Carlo Fusco
Affiliation:
Department of Pediatrics, Child Neurology Unit, Azienda USL-IRCCS Di Reggio Emilia, Reggio Emilia, Italy
*
Corresponding author: C. A. Cesaroni; Email: [email protected]
Get access Rights & Permissions [Opens in a new window]

Abstract

An abstract is not available for this content so a preview has been provided. Please use the Get access link above for information on how to access this content.
Image of the first page of this content. For PDF version, please use the ‘Save PDF’ preceeding this image.'

Keywords

Malformationcerebellumconnexin-26deafness
Type
Letter to the Editor: New Observation
Information
Canadian Journal of Neurological Sciences , Volume 51 , Issue 4 , July 2024 , pp. 592 - 594
Copyright
© The Author(s), 2023. Published by Cambridge University Press on behalf of Canadian Neurological Sciences Federation

Access options

Get access to the full version of this content by using one of the access options below. (Log in options will check for institutional or personal access. Content may require purchase if you do not have access.)

Article purchase

Temporarily unavailable

References

Ray, M, Sarkar, S, Sable, MN. Genetics landscape of nonsyndromic hearing loss in Indian populations. J Pediatr Genet. 2021;11:5–14. DOI: 10.1055/s-0041-1740532.Google ScholarPubMed
Chen, P, Wu, W, Zhang, J, et al. Pathological mechanisms of connexin26-related hearing loss: potassium recycling, ATP-calcium signaling, or energy supply? Front Mol Neurosci. 2022;15:976388. DOI: 10.3389/fnmol.2022.976388.CrossRefGoogle ScholarPubMed
Moosavi, A, Kanekar, S. Congenital malformations of cerebellum. Clin Perinatol. 2022;49:603–21. DOI: 10.1016/j.clp.2022.04.003.CrossRefGoogle ScholarPubMed
Todt, I, Mazereeuw-Hautier, J, Binder, B, Willems, PJ. Dandy-walker malformation in patients with KID syndrome associated with a heterozygote mutation (p. Asp50Asn) in the GJB2 gene encoding connexin 26. Clin Genet. 2009;76:404–8. DOI: 10.1111/j.1399-0004.2009.01211.x.CrossRefGoogle ScholarPubMed
Bygum, A, Betz, RC, Kragballe, K, et al. KID syndrome: report of a scandinavian patient with connexin-26 gene mutation. Acta Derm Venereol. 2005;85:152–5. DOI: 10.1080/00015550410024148.CrossRefGoogle ScholarPubMed
Binder, B, Hennies, HC, Kraschl, R, Smolle, J. Connexin-26-mutation bei “keratitis- ichthyosis-deafness”-syndrom (KID-Syndrom) [connexin 26 mutation and keratitis-ichthyosis-deafness (KID) syndrome]. J Dtsch Dermatol Ges. 3:2005;105–8. DOI: 10.1111/j.1610-0378.2005.04748.x.CrossRefGoogle ScholarPubMed
Boudghene-Stambouli, O, Merad-Boudia, A, Abdelali, S. KID-syndrome, pachydermatoglyphie et syndrome du Dandy Walker [KID syndrome, pachydermatoglyphy and Dandy-Walker syndrome]. Ann Dermatol Venereol. 1994;121:99–102.Google ScholarPubMed
Valiente, M, Ciceri, G, Rico, B, Marín, O. Focal adhesion kinase modulates radial glia-dependent neuronal migration through connexin-26. J Neurosci. 2011;31:11678–91. DOI: 10.1523/JNEUROSCI.2678-11.2011.CrossRefGoogle ScholarPubMed