NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns

Hannah Stamberger, Trine B. Hammer, Elena Gardella, Danique R. M. Vlaskamp, Birgitte Bertelsen, Simone Mandelstam, Iris de Lange, Jing Zhang, Candace T. Myers, Christina Fenger, Zaid Afawi, Edith P. Almanza Fuerte, Danielle M. Andrade, Yunus Balcik, Bruria Ben Zeev, Mark F. Bennett, Samuel F. Berkovic, Bertrand Isidor, Arjan Bouman, Eva BrilstraOyvind L. Busk, Anita Cairns, Roseline Caumes, Nicolas Chatron, Russell C. Dale, Christa de Geus, Patrick Edery, Deepak Gill, Jacob Bie Granild-Jensen, Lauren Gunderson, Boudewijn Gunning, Gali Heimer, Johan R. Helle, Michael S. Hildebrand, Georgie Hollingsworth, Volodymyr Kharytonov, Eric W. Klee, Bobby P. C. Koeleman, David A. Koolen, Christian Korff, Sebastien Kury, Gaetan Lesca, Dorit Lev, Richard J. Leventer, Mark T. Mackay, Erica L. Macke, Meriel McEntagart, Shekeeb S. Mohammad, Pauline Monin, Martino Montomoli, Eva Morava, Sebastien Moutton, Alison M. Muir, Elena Parrini, Peter Procopis, Emmanuelle Ranza, Laura Reed, Philipp S. Reif, Felix Rosenow, Massimiliano Rossi, Lynette G. Sadleir, Tara Sadoway, Helenius J. Schelhaas, Amy L. Schneider, Krati Shah, Ruth Shalev, Sanjay M. Sisodiya, Thomas Smol, Connie T. R. M. Stumpel, Kyra Stuurman, Joseph D. Symonds, Frederic Tran Mau-Them, Nienke Verbeek, Judith S. Verhoeven, Geoffrey Wallace, Keren Yosovich, Yuri A. Zarate, Ayelet Zerem, Sameer M. Zuberi, Renzo Guerrini, Heather C. Mefford, Chirag Patel, Yue-Hua Zhang, Rikke S. Moller, Ingrid E. Scheffer*

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

3 Citations (Web of Science)
Original languageEnglish
Pages (from-to)363-373
Number of pages11
JournalGenetics in Medicine
Volume23
Issue number2
Early online date4 Nov 2020
DOIs
Publication statusPublished - Feb 2021

Keywords

  • NEXMIF
  • KIAA2022
  • developmental and epileptic encephalopathy
  • epilepsy
  • intellectual disability
  • INTELLECTUAL DISABILITY
  • ILAE COMMISSION
  • POSITION PAPER
  • MUTATIONS
  • EPILEPSY
  • CLASSIFICATION
  • INACTIVATION
  • MOSAICISM
  • MYOCLONIA

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