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

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

doi:10.1038/s41436-020-00988-9

Scientific article

English

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

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

Published inGenetics in Medicine, vol. 23, no. 2, p. 363-373

Publication date2021

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.

Keywords

Autism Spectrum Disorder/genetics
Brain Diseases/genetics
Epilepsy/genetics
Female
Genes, X-Linked/genetics
Humans
Male
Nerve Tissue Proteins
Seizures/genetics

Affiliation entities

Faculté de médecine / Section de médecine clinique / Département de pédiatrie, gynécologie et obstétrique

Citation (ISO format)

STAMBERGER, Hannah et al. NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns. In: Genetics in Medicine, 2021, vol. 23, n° 2, p. 363–373. doi: 10.1038/s41436-020-00988-9

Article (Published version)

Identifiers

PID : unige:157610
DOI : 10.1038/s41436-020-00988-9
PMID : 33144681

Commercial URLhttps://pure.rug.nl/ws/portalfiles/portal/174214427/s41436_020_00988_9.pdf

ISSN of the journal1098-3600

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Creation11/08/2021 15:44:00

First validation11/08/2021 15:44:00

Update time16/03/2023 02:14:54

Status update16/03/2023 02:14:48

Last indexation01/10/2024 22:36:57

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

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.

Technical informations