Article
KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation.
Brain : a journal of neurology - 5 Dec 2020
Cif Laura, Demailly Diane, Lin Jean-Pierre, Barwick Katy E, Sa Mario, Abela Lucia, Malhotra Sony, Chong Wui K, Steel Dora, Sanchis-Juan Alba, Ngoh Adeline, Trump Natalie, Meyer Esther, Vasques Xavier, Rankin Julia, Allain Meredith W, Applegate Carolyn D, Attaripour Isfahani Sanaz, Baleine Julien, Balint Bettina, Bassetti Jennifer A, Baple Emma L, Bhatia Kailash P, Blanchet Catherine, Burglen Lydie, Cambonie Gilles, Seng Emilie Chan, Bastaraud Sandra Chantot, Cyprien Fabienne, Coubes Christine, d'Hardemare Vincent, Doja Asif, Dorison Nathalie, Doummar Diane, Dy-Hollins Marisela E, Farrelly Ellyn, Fitzpatrick David R, Fearon Conor, Fieg Elizabeth L, Fogel Brent L, Forman Eva B, Fox Rachel G, Gahl William A, Galosi Serena, Gonzalez Victoria, Graves Tracey D, Gregory Allison, Hallett Mark, Hasegawa Harutomo, Hayflick Susan J, Hamosh Ada, Hully Marie, Jansen Sandra, Jeong Suh Young, Krier Joel B, Krystal Sidney, Kumar Kishore R, Laurencin Chloé, Lee Hane, Lesca Gaetan, François Laurence Lion, Lynch Timothy, Mahant Neil, Martinez-Agosto Julian A, Milesi Christophe, Mills Kelly A, Mondain Michel, Morales-Briceno Hugo, Ostergaard John R, Pal Swasti, Pallais Juan C, Pavillard Frédérique, Perrigault Pierre-Francois, Petersen Andrea K, Polo Gustavo, Poulen Gaetan, Rinne Tuula, Roujeau Thomas, Rogers Caleb, Roubertie Agathe, Sahagian Michelle, Schaefer Elise, Selim Laila, Selway Richard, Sharma Nutan, Signer Rebecca, Soldatos Ariane G, Stevenson David A, Stewart Fiona, Tchan Michel, Verma Ishwar C, de Vries Bert B A, Wilson Jenny L, Wong Derek A, Zaitoun Raghda, Zhen Dolly, Znaczko Anna, Dale Russell C, de Gusmão Claudio M, Friedman Jennifer, Fung Victor S C, King Mary D, Mohammad Shekeeb S, Rohena Luis, Waugh Jeff L, Toro Camilo, Raymond F Lucy, Topf Maya, Coubes Philippe, Gorman Kathleen M, Kurian Manju A
Abstract excerpt
Heterozygous mutations in KMT2B are associated with an early-onset, progressive and often complex dystonia (DYT28). Key characteristics of typical disease include focal motor features at disease presentation, evolving through a caudocranial pattern into generalized dystonia, with prominent oromandibular, laryngeal and cervical involvement. Although KMT2B-related disease is emerging as one of the most common...