Epilepsy and neurodevelopmental disorder associated with TAOK1 gene: a relationship to take into account

被引：0
|
作者：
Juiz Fernandez, A. [1 ]
Ortegon Aguilar, E. [2 ]
Barros Angueira, F. [3 ]
Gomez Lado, C. [4 ]
Pardellas Santiago, E. [5 ]
Lopez Gonzalez, F. J. [1 ]
Rodriguez Osorio, X. [1 ]
机构：
[1] Hosp Clin Univ, Refractory Epilepsy Unit Neurol, Santiago De Compostela, Spain
[2] Hosp Clin Univ, Neurol, Santiago De Compostela, Spain
[3] Hosp Clin Univ, Galician Publ Fdn Genom Med, Santiago De Compostela, Spain
[4] Hosp Clin Univ, Neuropediat, Santiago De Compostela, Spain
[5] Hosp Clin Univ, Refractory Epilepsy Unit Neurophysiol, Santiago De Compostela, Spain
来源：
EPILEPSIA | 2022年 / 63卷
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：
572
引用
收藏
页码：198 / 199
页数：2
相关论文
共 50 条
  • [21] SETD1B-associated neurodevelopmental disorder
    Roston, Alexandra
    Evans, Dan
    Gill, Harinder
    McKinnon, Margaret
    Isidor, Bertrand
    Cogne, Benjamin
    Mwenifumbo, Jill
    van Karnebeek, Clara
    An, Jianghong
    Jones, Steven J. M.
    Farrer, Matthew
    Demos, Michelle
    Connolly, Mary
    Gibson, William T.
    JOURNAL OF MEDICAL GENETICS, 2021, 58 (03) : 196 - 204
  • [22] OCLN gene variants identified in three patients with severe neurodevelopmental disorder associated with epilepsy, intellectual disability and malformation of cortical development
    Oner, Tulay Oncu
    Unalp, Aycan
    Hiz, Semra
    Bayram, Erhan
    Kaytan, Ismail
    Cingoz, Sultan
    EPILEPTIC DISORDERS, 2021, 23 (06) : 843 - 853
  • [23] De novo variants of NR4A2 are associated with neurodevelopmental disorder and epilepsy
    Singh, Sakshi
    Gupta, Aditi
    Zech, Michael
    Sigafoos, Ashley N.
    Clark, Karl J.
    Dincer, Yasemin
    Wagner, Matias
    Humberson, Jennifer B.
    Green, Sarah
    van Gassen, Koen
    Brandt, Tracy
    Schnur, Rhonda E.
    Millan, Francisca
    Si, Yue
    Mall, Volker
    Winkelmann, Juliane
    Gavrilova, Ralitza H.
    Klee, Eric W.
    Engleman, Kendra
    Safina, Nicole P.
    Slaugh, Rachel
    Bryant, Emily M.
    Tan, Wen-Hann
    Granadillo, Jorge
    Misra, Sunita N.
    Schaefer, G. Bradley
    Towner, Shelley
    Brilstra, Eva H.
    Koeleman, Bobby P. C.
    GENETICS IN MEDICINE, 2020, 22 (08) : 1413 - 1417
  • [24] Neurodevelopmental disorder associated with gene ARF3: A case report
    Henrique, Suelen dos Santos
    Franca, Mariana Jordao
    Silva Junior, Rui Carlos
    Santos, Mara Lucia Schmitz Ferreira
    do Valle, Daniel Almeida
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2024, 194 (09)
  • [25] A novel neurodevelopmental disorder associated with compound heterozygous variants in the huntingtin gene
    Lance H Rodan
    Julie Cohen
    Ali Fatemi
    Tammy Gillis
    Diane Lucente
    James Gusella
    Jonathan D Picker
    European Journal of Human Genetics, 2016, 24 : 1826 - 1827
  • [26] KCNB1 MUTATIONS ARE CAUSING A NEURODEVELOPMENTAL DISORDER INCLUDING EPILEPSY AND AUTISM
    Moller, R. S.
    de Kovel, C. G. F.
    Syrbe, S.
    Schonewolf-Greulich, B.
    Rokkjaer, M.
    Svaneby, D.
    Larsen, L. H. G.
    Brilstra, E. H.
    Verbeek, N.
    Kerr, B.
    Dubbs, H.
    Bayat, A.
    Desai, S.
    Naidu, S.
    Srivastava, S.
    Caglayan, H.
    Yis, U.
    Saunders, C.
    Rook, M.
    Plugge, S.
    Jayaraman, V.
    Rajagopalan, R.
    Goldberg, E.
    Marsh, E.
    Kessler, S.
    Bergqvist, C.
    Conlin, L.
    Krock, B.
    Thiffault, I.
    Pendziwiat, M.
    Helbig, I.
    Polster, T.
    Borggraefe, I.
    Lemke, J. R.
    van den Boogaardt, M-J.
    Gardella, E.
    Koeleman, B. P. C.
    EPILEPSIA, 2017, 58 : S31 - S31
  • [27] LSM1 is the new candidate gene for neurodevelopmental disorder
    Kilic, Gizem Kok
    Isik, Esra
    Alpay, Omer
    Atik, Tahir
    Aykut, Ayca
    Durmaz, Asude
    Cogulu, Ozgur
    Ozkinay, Ferda
    EUROPEAN JOURNAL OF MEDICAL GENETICS, 2022, 65 (11)
  • [28] Natural History of NARS1 Associated Neurodevelopmental Disorder
    Karagoz, Irem
    Houlden, Henry
    Efthymiou, Stephanie
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2024, 32 : 214 - 214
  • [29] PUM1 haploinsufficiency is associated with syndromic neurodevelopmental delay and epilepsy
    Voet, Julie
    Ceulemans, Berten
    Kooy, Frank
    Meuwissen, Marije E. C.
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2020, 182 (03) : 591 - 594
  • [30] Molecular Basis for Synaptotagmin-1-Associated Neurodevelopmental Disorder
    Bradberry, Mazdak M.
    Courtney, Nicholas A.
    Dominguez, Matthew J.
    Lofquist, Sydney M.
    Knox, Andrew T.
    Sutton, R. Bryan
    Chapman, Edwin R.
    NEURON, 2020, 107 (01) : 52 - +
12345