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

Identification of Intellectual Disability Genes in Female Patients with A Skewed X Inactivation Pattern

Fieremans, Nathalie
Van Esch, Hilde
Holvoet, Maureen
Van Goethem, Gert
Devriendt, Koenraad
Rosello, Monica
Mayo, Sonia
Martinez, Francisco
Jhangiani, Shalini
Muzny, Donna M
Gibbs, Richard A
Lupski, James R
Vermeesch, Joris R
Marynen, Peter
Froyen, Guy

August 2016

Intellectual disability (ID) is a heterogeneous disorder with an unknown molecular etiology in many ...

X-linked mental deficiency.

Des Portes, Vincent

January 2013

International audienceTen percent of cases of intellectual deficiency in boys are caused by genes lo...

Missense variants in TAF1 and developmental phenotypes: challenges of determining pathogenicity

Cheng, H.
Capponi, S.
Wakeling, E.
Marchi, E.
Li, Q.
Zhao, M.
Weng, C.
Stefan, P. G.
Ahlfors, H.
Kleyner, R.
Rope, A.
Lumaka, A.
Lukusa, P.
Devriendt, K.
Vermeesch, J.
Posey, J. E.
Palmer, E. E.
Murray, L.
Leon, E.
Diaz, J.
Worgan, L.
Mallawaarachchi, A.
Vogt, J.
de Munnik, S. A.
Dreyer, L.
Baynam, G.
Ewans, L.
Stark, Z.
Lunke, S.
Goncalves, A. R.
Soares, G.
Oliveira, J.
Fassi, E.
Willing, M.
Waugh, J. L.
Faivre, L.
Riviere, J. B.
Moutton, S.
Mohammed, S.
Payne, K.
Walsh, L.
Begtrup, A.
Guillen Sacoto, M. J.
Douglas, G.
Alexander, N.
Buckley, M. F.
Mark, P. R.
Ades, L. C.
Sandaradura, S. A.
Lupski, J. R.
Roscioli, T.
Agrawal, P. B.
Kline, A. D.
Wang, K.
Timmers, H. T. M.
Lyon, G. J.

October 2019

We recently described a new neurodevelopmental syndrome (TAF1/MRXS33 intellectual disability syndrom...

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
Fuerte, Edith P. Almanza
Andrade, Danielle M.
Balcik, Yunus
Ben Zeev, Bruria
Bennett, Mark F.
Berkovic, Samuel F.
Isidor, Bertrand
Bouman, Arjan
Brilstra, Eva
Busk, Oyvind 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
Kury, Sebastien
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
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
Moller, Rikke S.
Scheffer, Ingrid E.

February 2021

Purpose Pathogenic variants in the X-linked gene NEXMIF (previously KIAA2022) are associated with in...

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
Fuerte, Edith P. Almanza
Andrade, Danielle M.
Balcik, Yunus
Ben Zeev, Bruria
Bennett, Mark F.
Berkovic, Samuel F.
Isidor, Bertrand
Bouman, Arjan
Brilstra, Eva
Busk, Oyvind 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
Kury, Sebastien
Lesca, Gaetan
Lev, Dorit
Leventer, Richard J.
Mackay, Mark T.
Macke, Erica L.
McEntagart, Meriel
Mohammad, Shekeeb S.
Monin, Pauline
Zhang, Yue-Hua

February 2021

Purpose Pathogenic variants in the X-linked gene NEXMIF (previously KIAA2022) are associated with in...

Novel NEXMIF pathogenic variant in a boy with severe autistic features, intellectual disability, and epilepsy, and his mildly affected mother

Lambert, Nelle
Dauve, Corinne
Ranza, Emmanuelle Nathalie
Makrythanasis, Periklis
Santoni, Federico
Sloan Bena, Frédérique
Gimelli, Stefania
Blouin, Jean-Louis
Guipponi, Michel
Bottani, Armand
Antonarakis, Stylianos
Kosel, Markus Mathaus
Fluss, Joel Victor
Giacobino, Ariane

March 2020

Intellectual disability (ID) and autism spectrum disorders are complex neurodevelopmental disorders ...

Epilepsy and mental retardation limited to females: an under-recognized disorder

Scheffer, I.
Turner, S.
Dibbens, L.
Bayly, M.
Friend, K.
Hodgson, B.
Burrows, L.
Shaw, M.
Wei, C.
Ullmann, R.
Ropers, H.
Szepetowski, P.
Haan, E.
Mazarib, A.
Afawi, Z.
Neufeld, M.
Andrews, P.
Wallace, G.
Kivity, S.
Lev, D.
et al.

January 2008

Epilepsy and Mental Retardation limited to Females (EFMR) which links to Xq22 has been reported in o...

IQSEC2 mutation update and review of the female-specific phenotype spectrum including intellectual disability and epilepsy

Shoubridge, C.
Harvey, R.J.
Dudding-Byth, T.

January 2019

The IQSEC2- related disorders represent a spectrum of X-chromosome phenotypes with intellectual disa...

NEXMIF encephalopathy: DeNovogear output of WES data of the family

Cioclu, Maria Cristina
Coppola, Antonietta
Tondelli, Manuela
Vaudano, Anna Elisabetta
Giovannini, Giada
Krithika, S.
Iacomino, Michele
Zara, Federico
Sisodiya, Sanjay
Meletti, Stefano

August 2021

The developmental and epileptic encephalopathies (DEE) are the most severe group of epilepsies. Rece...

De novo mutations of KIAA2022 in females cause intellectual disability and intractable epilepsy

de Lange, Iris M
Helbig, Katherine L
Weckhuysen, Sarah
Moller, Rikke S
Velinov, Milen
Dolzhanskaya, Natalia
Marsh, Eric
Helbig, Ingo
Devinsky, Orrin
Tang, Sha
Mefford, Heather C
Myers, Candace T
Van Paesschen, Wim
Striano, Pasquale
van Gassen, Koen
van Kempen, Marjan
de Kovel, Carolien GF
Piard, Juliette
Minassian, Berge A
Nezarati, Marjan M
Pessoa, Andre
Jacquette, Aurelia
Maher, Bridget
Balestrini, Simona
Sisodiya, Sanjay
Warde, Marie Therese Abi
De St Martin, Anne
Chelly, Jamel
van 't Slot, Ruben
Van Maldergem, Lionel
Brilstra, Eva H
Koeleman, Bobby PC

January 2016

BACKGROUND: Mutations in the KIAA2022 gene have been reported in male patients with X-linked intelle...

Clinical spectrum of KIAA2022 pathogenic variants in males:Case report of two boys with KIAA2022 pathogenic variants and review of the literature

Lorenzo, Melissa
Stolte-Dijkstra, Irene
van Rheenen, Patrick
Smith, Ronald Garth
Scheers, Tom
Walia, Jagdeep S.

June 2018

KIAA2022 is an X-linked intellectual disability (XLID) syndrome affecting males more severely than f...

Brain

Scheffer, I.
Turner, S.
Dibbens, L.
Bayly, M.
Friend, K.
Hodgson, B.
Burrows, L.
Shaw, M.
Chen, W.
Ullmann, R.
Ropers, H.
Szepetowski, P.
Haan, E.
Mazarib, A.
Afawi, Z.
Neufeld, M.
Andrews, P.
Wallace, G.
Kivity, S.
Lev, D.
Lerman-Sagie, T.
Derry, C.
Korczyn, A.
Gecz, J.
Mulley, J.
Berkovic, S.

January 2008

Epilepsy and Mental Retardation limited to Females (EFMR) which links to Xq22 has been reported in o...

Identification of Intellectual Disability Genes in Female Patients with A Skewed X Inactivation Pattern

Fieremans, Nathalie
Van Esch, Hilde
Holvoet, Maureen
Van Goethem, Gert
Devriendt, Koenraad
Rosello, Monica
Mayo, Sonia
Martinez, Francisco
Jhangiani, Shalini
Muzny, Donna M
Gibbs, Richard A
Lupski, James R
Vermeesch, Joris R
Marynen, Peter
Froyen, Guy

August 2016

Intellectual disability (ID) is a heterogeneous disorder with an unknown molecular etiology in many ...

X-linked mental deficiency.

Des Portes, Vincent

January 2013

International audienceTen percent of cases of intellectual deficiency in boys are caused by genes lo...

Missense variants in TAF1 and developmental phenotypes: challenges of determining pathogenicity

Cheng, H.
Capponi, S.
Wakeling, E.
Marchi, E.
Li, Q.
Zhao, M.
Weng, C.
Stefan, P. G.
Ahlfors, H.
Kleyner, R.
Rope, A.
Lumaka, A.
Lukusa, P.
Devriendt, K.
Vermeesch, J.
Posey, J. E.
Palmer, E. E.
Murray, L.
Leon, E.
Diaz, J.
Worgan, L.
Mallawaarachchi, A.
Vogt, J.
de Munnik, S. A.
Dreyer, L.
Baynam, G.
Ewans, L.
Stark, Z.
Lunke, S.
Goncalves, A. R.
Soares, G.
Oliveira, J.
Fassi, E.
Willing, M.
Waugh, J. L.
Faivre, L.
Riviere, J. B.
Moutton, S.
Mohammed, S.
Payne, K.
Walsh, L.
Begtrup, A.
Guillen Sacoto, M. J.
Douglas, G.
Alexander, N.
Buckley, M. F.
Mark, P. R.
Ades, L. C.
Sandaradura, S. A.
Lupski, J. R.
Roscioli, T.
Agrawal, P. B.
Kline, A. D.
Wang, K.
Timmers, H. T. M.
Lyon, G. J.

October 2019

We recently described a new neurodevelopmental syndrome (TAF1/MRXS33 intellectual disability syndrom...

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
Fuerte, Edith P. Almanza
Andrade, Danielle M.
Balcik, Yunus
Ben Zeev, Bruria
Bennett, Mark F.
Berkovic, Samuel F.
Isidor, Bertrand
Bouman, Arjan
Brilstra, Eva
Busk, Oyvind 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
Kury, Sebastien
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
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
Moller, Rikke S.
Scheffer, Ingrid E.

February 2021

Purpose Pathogenic variants in the X-linked gene NEXMIF (previously KIAA2022) are associated with in...

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
Fuerte, Edith P. Almanza
Andrade, Danielle M.
Balcik, Yunus
Ben Zeev, Bruria
Bennett, Mark F.
Berkovic, Samuel F.
Isidor, Bertrand
Bouman, Arjan
Brilstra, Eva
Busk, Oyvind 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
Kury, Sebastien
Lesca, Gaetan
Lev, Dorit
Leventer, Richard J.
Mackay, Mark T.
Macke, Erica L.
McEntagart, Meriel
Mohammad, Shekeeb S.
Monin, Pauline
Zhang, Yue-Hua

February 2021

Purpose Pathogenic variants in the X-linked gene NEXMIF (previously KIAA2022) are associated with in...

Novel NEXMIF pathogenic variant in a boy with severe autistic features, intellectual disability, and epilepsy, and his mildly affected mother

Lambert, Nelle
Dauve, Corinne
Ranza, Emmanuelle Nathalie
Makrythanasis, Periklis
Santoni, Federico
Sloan Bena, Frédérique
Gimelli, Stefania
Blouin, Jean-Louis
Guipponi, Michel
Bottani, Armand
Antonarakis, Stylianos
Kosel, Markus Mathaus
Fluss, Joel Victor
Giacobino, Ariane

March 2020

Intellectual disability (ID) and autism spectrum disorders are complex neurodevelopmental disorders ...

Epilepsy and mental retardation limited to females: an under-recognized disorder

Scheffer, I.
Turner, S.
Dibbens, L.
Bayly, M.
Friend, K.
Hodgson, B.
Burrows, L.
Shaw, M.
Wei, C.
Ullmann, R.
Ropers, H.
Szepetowski, P.
Haan, E.
Mazarib, A.
Afawi, Z.
Neufeld, M.
Andrews, P.
Wallace, G.
Kivity, S.
Lev, D.
et al.

January 2008

Epilepsy and Mental Retardation limited to Females (EFMR) which links to Xq22 has been reported in o...

IQSEC2 mutation update and review of the female-specific phenotype spectrum including intellectual disability and epilepsy

Shoubridge, C.
Harvey, R.J.
Dudding-Byth, T.

January 2019

The IQSEC2- related disorders represent a spectrum of X-chromosome phenotypes with intellectual disa...

NEXMIF encephalopathy: DeNovogear output of WES data of the family

Cioclu, Maria Cristina
Coppola, Antonietta
Tondelli, Manuela
Vaudano, Anna Elisabetta
Giovannini, Giada
Krithika, S.
Iacomino, Michele
Zara, Federico
Sisodiya, Sanjay
Meletti, Stefano

August 2021

The developmental and epileptic encephalopathies (DEE) are the most severe group of epilepsies. Rece...

De novo mutations of KIAA2022 in females cause intellectual disability and intractable epilepsy

de Lange, Iris M
Helbig, Katherine L
Weckhuysen, Sarah
Moller, Rikke S
Velinov, Milen
Dolzhanskaya, Natalia
Marsh, Eric
Helbig, Ingo
Devinsky, Orrin
Tang, Sha
Mefford, Heather C
Myers, Candace T
Van Paesschen, Wim
Striano, Pasquale
van Gassen, Koen
van Kempen, Marjan
de Kovel, Carolien GF
Piard, Juliette
Minassian, Berge A
Nezarati, Marjan M
Pessoa, Andre
Jacquette, Aurelia
Maher, Bridget
Balestrini, Simona
Sisodiya, Sanjay
Warde, Marie Therese Abi
De St Martin, Anne
Chelly, Jamel
van 't Slot, Ruben
Van Maldergem, Lionel
Brilstra, Eva H
Koeleman, Bobby PC

January 2016

BACKGROUND: Mutations in the KIAA2022 gene have been reported in male patients with X-linked intelle...

Clinical spectrum of KIAA2022 pathogenic variants in males:Case report of two boys with KIAA2022 pathogenic variants and review of the literature

Lorenzo, Melissa
Stolte-Dijkstra, Irene
van Rheenen, Patrick
Smith, Ronald Garth
Scheers, Tom
Walia, Jagdeep S.

June 2018

KIAA2022 is an X-linked intellectual disability (XLID) syndrome affecting males more severely than f...

Brain

Scheffer, I.
Turner, S.
Dibbens, L.
Bayly, M.
Friend, K.
Hodgson, B.
Burrows, L.
Shaw, M.
Chen, W.
Ullmann, R.
Ropers, H.
Szepetowski, P.
Haan, E.
Mazarib, A.
Afawi, Z.
Neufeld, M.
Andrews, P.
Wallace, G.
Kivity, S.
Lev, D.
Lerman-Sagie, T.
Derry, C.
Korczyn, A.
Gecz, J.
Mulley, J.
Berkovic, S.

January 2008

Epilepsy and Mental Retardation limited to Females (EFMR) which links to Xq22 has been reported in o...

Identification of Intellectual Disability Genes in Female Patients with A Skewed X Inactivation Pattern

Fieremans, Nathalie
Van Esch, Hilde
Holvoet, Maureen
Van Goethem, Gert
Devriendt, Koenraad
Rosello, Monica
Mayo, Sonia
Martinez, Francisco
Jhangiani, Shalini
Muzny, Donna M
Gibbs, Richard A
Lupski, James R
Vermeesch, Joris R
Marynen, Peter
Froyen, Guy

August 2016

Intellectual disability (ID) is a heterogeneous disorder with an unknown molecular etiology in many ...

X-linked mental deficiency.

Des Portes, Vincent

January 2013

International audienceTen percent of cases of intellectual deficiency in boys are caused by genes lo...

Missense variants in TAF1 and developmental phenotypes: challenges of determining pathogenicity

Cheng, H.
Capponi, S.
Wakeling, E.
Marchi, E.
Li, Q.
Zhao, M.
Weng, C.
Stefan, P. G.
Ahlfors, H.
Kleyner, R.
Rope, A.
Lumaka, A.
Lukusa, P.
Devriendt, K.
Vermeesch, J.
Posey, J. E.
Palmer, E. E.
Murray, L.
Leon, E.
Diaz, J.
Worgan, L.
Mallawaarachchi, A.
Vogt, J.
de Munnik, S. A.
Dreyer, L.
Baynam, G.
Ewans, L.
Stark, Z.
Lunke, S.
Goncalves, A. R.
Soares, G.
Oliveira, J.
Fassi, E.
Willing, M.
Waugh, J. L.
Faivre, L.
Riviere, J. B.
Moutton, S.
Mohammed, S.
Payne, K.
Walsh, L.
Begtrup, A.
Guillen Sacoto, M. J.
Douglas, G.
Alexander, N.
Buckley, M. F.
Mark, P. R.
Ades, L. C.
Sandaradura, S. A.
Lupski, J. R.
Roscioli, T.
Agrawal, P. B.
Kline, A. D.
Wang, K.
Timmers, H. T. M.
Lyon, G. J.

October 2019

We recently described a new neurodevelopmental syndrome (TAF1/MRXS33 intellectual disability syndrom...

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

Abstract

Extracted data

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

Abstract

Extracted data

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