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NEXMIF encephalopathy:an X-linked disorder with male and female phenotypic patterns
Authors
Zaid Afawi
Danielle M. Andrade
+83Â more
Yunus Balcik
Bruria Ben Zeev
Mark F. Bennett
Samuel F. Berkovic
Birgitte Bertelsen
Arjan Bouman
Eva Brilstra
Oyvind L. Busk
Anita Cairns
Roseline Caumes
Nicolas Chatron
Russell C. Dale
Christa de Geus
Iris de Lange
Patrick Edery
Christina Fenger
Edith P. Almanza Fuerte
Elena Gardella
Deepak Gill
Jacob Bie Granild-Jensen
Renzo Guerrini
Lauren Gunderson
Boudewijn Gunning
Trine B. Hammer
Gali Heimer
Johan R. Helle
Michael S. Hildebrand
Georgie Hollingsworth
Bertrand Isidor
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
Simone Mandelstam
Frederic Tran Mau-Them
Meriel McEntagart
Heather C. Mefford
Shekeeb S. Mohammad
Rikke S. Moller
Pauline Monin
Martino Montomoli
Eva Morava
Sebastien Moutton
Alison M. Muir
Candace T. Myers
Elena Parrini
Chirag Patel
Peter Procopis
Emmanuelle Ranza
Laura Reed
Philipp S. Reif
Felix Rosenow
Massimiliano Rossi
Lynette G. Sadleir
Tara Sadoway
Ingrid E. Scheffer
Helenius J. Schelhaas
Amy L. Schneider
Krati Shah
Ruth Shalev
Sanjay M. Sisodiya
Thomas Smol
Hannah Stamberger
Connie T. R. M. Stumpel
Kyra Stuurman
Joseph D. Symonds
Nienke Verbeek
Judith S. Verhoeven
Danique R. M. Vlaskamp
Geoffrey Wallace
Keren Yosovich
Yuri A. Zarate
Ayelet Zerem
Jing Zhang
Yue-Hua Zhang
Sameer M. Zuberi
Publication date
1 January 2021
Publisher
'Springer Science and Business Media LLC'
Doi
Cite
Abstract
Pathogenic variants in the X-linked gene NEXMIF (previously KIAA2022) are associated with intellectual disability (ID), autism spectrum disorder, and epilepsy. We aimed to delineate the female and male phenotypic spectrum of NEXMIF encephalopathy
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Last time updated on 12/08/2021