Heterozygous variants in KMT2E cause a spectrum of neurodevelopmental disorders and epilepsy
Heterozygous variants in KMT2E cause a spectrum of neurodevelopmental disorders and epilepsy
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O'donnell-Luria, Anne H , Pais, Lynn S , Faundes, Victor , Wood, Jordan C , Sveden, Abigail , Luria, Victor , Rami Abou Jamra , Accogli, Andrea , Amburgey, Kimberly , Britt-Marie Anderlid , Azzarello-Burri, Silvia , Basinger, Alice A , Bianchini, Claudia , Bird, Lynn M , Buchert, Rebecca , Carre, Wilfrid , Ceulemans, Sophia , Perrine, Charles , Cox, Helen , Culliton, Lisa , Currò, Aurora , Deciphering Developmental Disorders (Ddd) Study , Demurger, Florence , Dowling, James J , Duban-Bedu, Benedicte , Dubourg, Christele , Escobar, Luis F , Ferrarini, Alessandra , Haack, Tobias B , Hashim, Mona , Heide, Solveig , Helbig, Katherine L , Helbig, Ingo , Heredia, Raul , Heron, Delphine , Bertrand Isidor , Jonasson, Amy R , Joset, Pascal , Keren, Boris , Kok, Fernando , Kroes, Hester Y , Lavillaureix, Alinoë , Lu, Xin , Maas, Saskia , Maegawa, Gustavo Hb , Marcelis, Carlo Lm , Saga, Elise Eiset , Mark, Paul R , Masruha, Mercelo R , Mclaughlin, Heather M , Mcwalter, Kirsty , Melchinger, Esther U , Mercimek-Andrews, Saadet , Nava, Caroline , Pendziwiat, Manuela , Person, Richard , Gian Paolo Paolo Ramelli , Ramos, Luiza Lp , Rauch, Anita , Reavey, Caitlin , Renieri, Alessandra , Angelika Rieß Amarilis Sanchez-Valle , Shifteh Sattar , Saunders, Carol , Schwarz, Niklas , Smol, Thomas , Srour, Myriam , Steindl, Katharina , Syrbe, Steffen , Taylor, Jenny C , Telegrafi, Aida , Thiffault, Isabelle , Trauner, Doris A , Van Der Linden, Helio , Silvana Van Koningsbruggen , Villard, Laurent , Vogel, Ida , Vogt, Julie , Weber, Yvonne G , Wentzensen, Ingrid M , Widjaja, Elysa , Zak, Jaroslav , Baxter, Samantha , Banka, Siddharth and Rodan, Lance H
Publisher
Cold Spring Harbor: Cold Spring Harbor Laboratory Press
Journal title
Language
English
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Publisher
Cold Spring Harbor: Cold Spring Harbor Laboratory Press
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Scope and Contents
Contents
We delineate a KMT2E gene-related neurodevelopmental disorder based on 38 individuals in 36 families. This includes 31 distinct heterozygous variants in the KMT2E gene (28 ascertained from Matchmaker Exchange and 3 previously reported), and 4 individuals with chromosome 7q22.2-22.23 microdeletions encompassing the KMT2E gene (1 previously reported)...
Alternative Titles
Full title
Heterozygous variants in KMT2E cause a spectrum of neurodevelopmental disorders and epilepsy
Authors, Artists and Contributors
Author / Creator
Pais, Lynn S
Faundes, Victor
Wood, Jordan C
Sveden, Abigail
Luria, Victor
Rami Abou Jamra
Accogli, Andrea
Amburgey, Kimberly
Britt-Marie Anderlid
Azzarello-Burri, Silvia
Basinger, Alice A
Bianchini, Claudia
Bird, Lynn M
Buchert, Rebecca
Carre, Wilfrid
Ceulemans, Sophia
Perrine, Charles
Cox, Helen
Culliton, Lisa
Currò, Aurora
Deciphering Developmental Disorders (Ddd) Study
Demurger, Florence
Dowling, James J
Duban-Bedu, Benedicte
Dubourg, Christele
Escobar, Luis F
Ferrarini, Alessandra
Haack, Tobias B
Hashim, Mona
Heide, Solveig
Helbig, Katherine L
Helbig, Ingo
Heredia, Raul
Heron, Delphine
Bertrand Isidor
Jonasson, Amy R
Joset, Pascal
Keren, Boris
Kok, Fernando
Kroes, Hester Y
Lavillaureix, Alinoë
Lu, Xin
Maas, Saskia
Maegawa, Gustavo Hb
Marcelis, Carlo Lm
Saga, Elise Eiset
Mark, Paul R
Masruha, Mercelo R
Mclaughlin, Heather M
Mcwalter, Kirsty
Melchinger, Esther U
Mercimek-Andrews, Saadet
Nava, Caroline
Pendziwiat, Manuela
Person, Richard
Gian Paolo Paolo Ramelli
Ramos, Luiza Lp
Rauch, Anita
Reavey, Caitlin
Renieri, Alessandra
Angelika Rieß Amarilis Sanchez-Valle
Shifteh Sattar
Saunders, Carol
Schwarz, Niklas
Smol, Thomas
Srour, Myriam
Steindl, Katharina
Syrbe, Steffen
Taylor, Jenny C
Telegrafi, Aida
Thiffault, Isabelle
Trauner, Doris A
Van Der Linden, Helio
Silvana Van Koningsbruggen
Villard, Laurent
Vogel, Ida
Vogt, Julie
Weber, Yvonne G
Wentzensen, Ingrid M
Widjaja, Elysa
Zak, Jaroslav
Baxter, Samantha
Banka, Siddharth
Rodan, Lance H
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Primary Identifiers
Record Identifier
TN_cdi_proquest_journals_2188082354
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_journals_2188082354
Other Identifiers
E-ISSN
2692-8205
DOI
10.1101/566091
How to access this item
https://www.proquest.com/docview/2188082354?pq-origsite=primo&accountid=13902
