Chewing induced reflex seizures (“eating epilepsy”) and eye closure sensitivity as a common feature in pediatric patients with SYNGAP1 mutations: Review of literature and report of 8 cases

Autor: von Stülpnagel, Celina, Hartlieb, Till, Borggräfe, Ingo, Coppola, Antonietta, Gennaro, Elena, Eschermann, Kirsten, Kiwull, Lorenz, Kluger, Felicitas, Krois, Ilona, Møller, Rikke S., Rössler, Franziska, Santulli, Lia, Schwermer, Constanze, Wallacher-Scholz, Barbara, Zara, Federico, Wolf, Peter, Kluger, Gerhard

Publikováno v: In Seizure: European Journal of Epilepsy February 2019 65:131-137

Genetic and phenotypic spectrum in the NONO‐associated syndromic disorder.

Autor: Roessler, Franziska, Beck, Anita E., Susie, Ball, Tobias, Bartolomaeus, Begtrup, Amber, Biskup, Saskia, Caluseriu, Oana, Delanty, Norman, Fröhlich, Christine, Greally, Marie T., Karnstedt, Maike, Klöckner, Chiara, Kurtzberg, Joanne, Schubert, Susanna, Schulze, Martin, Weidenbach, Michael, Westphal, Dominik S., White, Maire, Wolf, Cordula M., Zyskind, Jacob

Publikováno v: American Journal of Medical Genetics. Part A; Feb2023, Vol. 191 Issue 2, p469-478, 10p

PUF60 variants cause a syndrome of ID, short stature, microcephaly, coloboma, craniofacial, cardiac, renal and spinal features

Autor: Low, Karen J, Ansari, Morad, Abou Jamra, Rami, Clarke, Angus, El Chehadeh, Salima, FitzPatrick, David R, Greenslade, Mark, Henderson, Alex, Hurst, Jane, Keller, Kory, Kuentz, Paul, Prescott, Trine, Roessler, Franziska, Selmer, Kaja K, Schneider, Michael C, Stewart, Fiona, Tatton-Brown, Katrina, Thevenon, Julien, Vigeland, Magnus D, Vogt, Julie, Willems, Marjolaine, Zonana, Jonathan, Study, D D D, Smithson, Sarah F

Publikováno v: European Journal of Human Genetics
Low, K J, Ansari, M, Abou Jamra, R, Clarke, A, El Chehadeh, S, FitzPatrick, D R, Greenslade, M, Henderson, A, Hurst, J, Keller, K, Kuentz, P, Prescott, T, Roessler, F, Selmer, K K, Schneider, M C, Stewart, F, Tatton-Brown, K, Thevenon, J, Vigeland, M D, Vogt, J, Willems, M, Zonana, J, Study, D D D & Smithson, S F 2017, ' PUF60 variants cause a syndrome of ID, short stature, microcephaly, coloboma, craniofacial, cardiac, renal and spinal features ', European Journal of Human Genetics, vol. 25, no. 5, pp. 552-559 . https://doi.org/10.1038/ejhg.2017.27

PUF60 encodes a nucleic acid-binding protein, a component of multimeric complexes regulating RNA splicing and transcription. In 2013, patients with microdeletions of chromosome 8q24.3 including PUF60 were found to have developmental delay, microcepha

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::e54ab8e8bab8e5f45037810d1beb10e4
https://openaccess.sgul.ac.uk/id/eprint/109922/1/ejhg201727.pdf

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