Phenotypic characterization of an older adult male with late-onset epilepsy and a novel mutation in ASXL3 shows overlap with the associated Bainbridge-Ropers syndrome

Willem Verhoeven1 Vincent van Gogh Institute for Psychiatry, Centre of Excellence for Neuropsychiatry, Venray, the Netherlands;2 Department of Psychiatry, Erasmus University Medical Centre, Rotterdam, the NetherlandsCorrespondence[email protected]

Jos Egger1 Vincent van Gogh Institute for Psychiatry, Centre of Excellence for Neuropsychiatry, Venray, the Netherlands;3 Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, the Netherlands

Emmy Räkers4 ASVZ, Centre for People with Intellectual Disabilities, Sliedrecht, the Netherlands

Arjen van Erkelens5 Department of Human Genetics, Radboud University Medical Centre, Nijmegen, the Netherlands

Rolph Pfundt5 Department of Human Genetics, Radboud University Medical Centre, Nijmegen, the Netherlands

Marjolein H Willemsen5 Department of Human Genetics, Radboud University Medical Centre, Nijmegen, the Netherlands

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Qin Wang, Jianming Zhang, Nan Jiang, Jiansheng Xie, Jingxin Yang & Xiaoshan Zhao. (2022) De novo nonsense variant in ASXL3 in a Chinese girl causing Bainbridge–Ropers syndrome: A case report and review of literature . Molecular Genetics & Genomic Medicine 10:5.
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. (2022) Carbamazepine/risperidone/valproic-acid. Reactions Weekly 1889:1, pages 103-103.
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Schaida Schirwani, Shadi Albaba, Deanna Alexis Carere, Maria J. Guillen Sacoto, Francisca Milan Zamora, Yue Si, Rachel Rabin, John Pappas, Deborah L. Renaud, Natalie Hauser, Evan Reid, Patricia Blanchet, Nichola Foulds, Abhijit Dixit, Richard Fisher, Ruth Armstrong, Bertrand Isidor, Benjamin Cogne, Samantha Schrier Vergano, Serwet Demirdas, Natalie Dykzeul, Julie S. Cohen, Katheryn Grand, Dayna Morel, Anne Slavotinek, Hessa F. Albassam, Swati Naik, John Dean, Nicola Ragge, Cinzia Costa, Maria Giovanna Tedesco, Rachel E. Harrison, Arjan Bouman, Emily Palen, Thomas D. Challman, Marjolein H. Willemsen, Julie Vogt, Christopher Cunniff, Katherine Bergstrom, Jagdeep S. Walia, Ange‐Line Bruel, Usha Kini, Fowzan S. Alkuraya, Valerie Slegesky, Naomi Meeks, Paula Girotto, Diana Johnson, Ruth Newbury‐Ecob, Charlotte W. Ockeloen, Paolo Prontera, Sally Ann Lynch, Dong Li, John M. GrahamJrJr, Tyler Mark Pierson & Meena Balasubramanian. (2021) Expanding the phenotype of ASXL3 ‐related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3 . American Journal of Medical Genetics Part A 185:11, pages 3446-3458.
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Kris Pui-Tak Yu, Ho-Ming Luk, Jasmine L.F. Fung, Brian Hon-Yin Chung & Ivan Fai-Man Lo. (2021) Further expanding the clinical phenotype in Bainbridge-Ropers syndrome and dissecting genotype-phenotype correlation in the ASXL3 mutational cluster regions. European Journal of Medical Genetics 64:1, pages 104107.
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Schaida Schirwani, Natalie Hauser, Anna Platt, Sumit Punj, Katrina Prescott, Natalie Canham, D.D.D. study, Sahar Mansour & Meena Balasubramanian. (2020) Mosaicism in ASXL3-related syndrome: Description of five patients from three families. European Journal of Medical Genetics 63:6, pages 103925.
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Faroug Ababneh, Marwan Nashabat & Majid Alfadhel. (2019) A new case of BainbridgeRopers syndrome (BRPS): delineating the phenotype and review of literature. Journal of Biochemical and Clinical Genetics, pages 65-69.
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Phenotypic characterization of an older adult male with late-onset epilepsy and a novel mutation in ASXL3 shows overlap with the associated Bainbridge-Ropers syndrome

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Phenotypic characterization of an older adult male with late-onset epilepsy and a novel mutation in ASXL3 shows overlap with the associated Bainbridge-Ropers syndrome

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