GENETIC AND PHENOTYPIC HETEROGENEITY SUGGEST THERAPEUTIC IMPLICATIONS IN SCN2A-RELATED DISORDERS

被引:0
|
作者
Wolff, M. [1 ]
Johannesen, K. M. [2 ]
Hedrich, U. B. S. [3 ]
Kluger, G. [4 ]
Lerche, H. [3 ]
Moller, R. S. [2 ]
机构
[1] Univ Childrens Hosp, Dept Pediat Neurol & Dev Med, Tubingen, Germany
[2] Danish Epilepsy Ctr, Dianalund, Denmark
[3] Univ Tubingen, Dept Neurol & Epileptol, Hertie Inst Clin Brain Res, Tubingen, Germany
[4] Epilepsy Ctr Children & Adolescents, Schoen Klin, Vogtareuth, Germany
关键词
D O I
暂无
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
0023
引用
收藏
页码:S12 / S13
页数:2
相关论文
共 50 条
  • [1] Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders
    Wolff, Markus
    Johannesen, Katrine M.
    Hedrich, Ulrike B. S.
    Masnada, Silvia
    Rubboli, Guido
    Gardella, Elena
    Lesca, Gaetan
    Ville, Dorothee
    Milh, Mathieu
    Villard, Laurent
    Afenjar, Alexandra
    Chantot-Bastaraud, Sandra
    Mignot, Cyril
    Lardennois, Caroline
    Nava, Caroline
    Schwarz, Niklas
    Gerard, Marion
    Perrin, Laurence
    Doummar, Diane
    Auvin, Stephane
    Miranda, Maria J.
    Hempel, Maja
    Brilstra, Eva
    Knoers, Nine
    Verbeek, Nienke
    van Kempen, Marjan
    Braun, Kees P.
    Mancini, Grazia
    Biskup, Saskia
    Hoertnagel, Konstanze
    Doecker, Miriam
    Bast, Thomas
    Loddenkemper, Tobias
    Wong-Kisiel, Lily
    Baumeister, Friedrich M.
    Fazeli, Walid
    Striano, Pasquale
    Dilena, Robertino
    Fontana, Elena
    Zara, Federico
    Kurlemann, Gerhard
    Klepper, Joerg
    Thoene, Jess G.
    Arndt, Daniel H.
    Deconinck, Nicolas
    Schmitt-Mechelke, Thomas
    Maier, Oliver
    Muhle, Hiltrud
    Wical, Beverly
    Finetti, Claudio
    BRAIN, 2017, 140 : 1316 - 1336
  • [2] CLINICAL HETEROGENEITY AND ITS POTENTIAL THERAPEUTIC IMPLICATIONS IN CHILDREN WITH SCN2A-RELATED DISORDERS
    Johannesen, K. M.
    Wolf, M.
    Masnada, S.
    Rubboli, G.
    Gardella, E.
    Milh, M.
    Villard, L.
    Mignot, C.
    Lardennois, C.
    Bourel-Ponchel, E.
    Nava, C.
    Lesca, G.
    Gerard, M.
    Perrin, L.
    Doummar, D.
    Auvin, S.
    Miranda, M. J.
    Brilstra, E.
    Knoers, N.
    Doecker, M.
    Bast, T.
    Loddenkemper, T.
    Wong-Kisiel, L.
    Baumeister, F. M.
    Fazeli, W.
    Striano, P.
    Kurlemann, G.
    Klepper, J.
    Thoene, J. G.
    Arndt, D. H.
    Schmitt-Mechelke, T.
    Maier, O.
    Muhle, H.
    Wical, B.
    Finetti, C.
    Brueckner, R.
    Pietz, J.
    Golla, G.
    Jillella, D.
    Afenjar, A.
    Linnet, K. M.
    Charles, P.
    Oiglane-Slik, E.
    Mantovani, J. F.
    Deprez, M.
    Scalais, E.
    Lagae, L.
    Nikanorova, M.
    Hjalgrim, H.
    Depienne, C.
    EPILEPSIA, 2016, 57 : 114 - 115
  • [3] The phenotypic spectrum of SCN2A-related epilepsy
    Reynolds, Claire
    King, Mary D.
    Gorman, Kathleen M.
    EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY, 2020, 24 : 117 - 122
  • [4] Development and function in SCN2A-related disorders
    Goad, B.
    Rodda, J.
    Allen, M.
    Bamborschke, D.
    Overmars, I.
    Kerr, R.
    Bushlin, I.
    De Dominicis, A.
    Berecki, G.
    Petrou, S.
    Specchio, N.
    Trivisano, M.
    Moller, R.
    Wolff, M.
    Scheffer, I.
    Fazeli, W.
    Howell, K.
    EPILEPSIA, 2024, 65 : 44 - 44
  • [5] SCN2A-Related Epilepsy: The Phenotypic Spectrum, Treatment and Prognosis
    Zeng, Qi
    Yang, Ying
    Duan, Jing
    Niu, Xueyang
    Chen, Yi
    Wang, Dan
    Zhang, Jing
    Chen, Jiaoyang
    Yang, Xiaoling
    Li, Jinliang
    Yang, Zhixian
    Jiang, Yuwu
    Liao, Jianxiang
    Zhang, Yuehua
    FRONTIERS IN MOLECULAR NEUROSCIENCE, 2022, 15
  • [6] Further delineation of phenotypic spectrum of SCN2A-related disorder
    Richardson, Ruth
    Baralle, Diana
    Bennett, Christopher
    Briggs, Tracy
    Bijlsma, Emilia K.
    Clayton-Smith, Jill
    Constantinou, Panayiotis
    Foulds, Nicola
    Jarvis, Joanna
    Jewell, Rosalyn
    Johnson, Diana S.
    McEntagart, Meriel
    Parker, Michael J.
    Radley, Jessica A.
    Robertson, Lisa
    Ruivenkamp, Claudia
    Rutten, Julie W.
    Tellez, James
    Turnpenny, Peter D.
    Wilson, Valerie
    Wright, Michael
    Balasubramanian, Meena
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2022, 188 (03) : 867 - 877
  • [7] Presence and impact of symptoms in SCN2A-related disorders
    Rodda, Jill
    Overmars, Isabella
    Scheffer, Ingrid
    Howell, Katherine
    EPILEPSIA, 2021, 62 : 299 - 299
  • [8] Phenotypic spectrum and genetics of SCN2A-related disorders, treatment options, and outcomes in epilepsy and beyond
    Wolff, Markus
    Brunklaus, Andreas
    Zuberi, Sameer M.
    EPILEPSIA, 2019, 60 : S59 - S67
  • [9] Computational analysis of 10,860 phenotypic annotations in individuals with SCN2A-related disorders
    Crawford, Katherine
    Xian, Julie
    Helbig, Katherine L.
    Galer, Peter D.
    Parthasarathy, Shridhar
    Lewis-Smith, David
    Kaufman, Michael C.
    Fitch, Eryn
    Ganesan, Shiva
    O'Brien, Margaret
    Codoni, Veronica
    Ellis, Colin A.
    Conway, Laura J.
    Taylor, Deanne
    Krause, Roland
    Helbig, Ingo
    GENETICS IN MEDICINE, 2021, 23 (07) : 1263 - 1272
  • [10] Expanded clinical phenotype spectrum correlates with variant function in SCN2A-related disorders
    Berg, Anne T.
    Thompson, Christopher H.
    Myers, Leah Schust
    Anderson, Erica
    Evans, Lindsey
    Kaiser, Ariela J. E.
    Paltell, Katherine
    Nili, Amanda N.
    Dekeyser, Jean-Marc L.
    Abramova, Tatiana, V
    Nesbitt, Gerry
    Egan, Shawn M.
    Vanoye, Carlos G.
    George Jr, Alfred L.
    BRAIN, 2024, 147 (08) : 2761 - 2774