CLINICAL WHOLE-EXOME SEQUENCING IN FOCAL EPILEPSIES OF SUSPECTED GENETIC ETIOLOGY

被引:0
|
作者
Perucca, P. [1 ,2 ]
Scheffer, I. E. [2 ,3 ,4 ]
O'Brien, T. J. [1 ,2 ]
Harvey, S. [4 ]
James, P. A. [1 ]
Lunke, S. [2 ,5 ]
Thorne, N. [6 ]
Gaff, C. [6 ]
Kwan, P. [1 ,2 ]
机构
[1] Royal Melbourne Hosp, Melbourne, Vic, Australia
[2] Univ Melbourne, Melbourne, Vic, Australia
[3] Austin Hlth, Florey Inst, Melbourne, Vic, Australia
[4] Royal Childrens Hosp, Melbourne, Vic, Australia
[5] Ctr Translat Pathol, Melbourne, Vic, Australia
[6] Melbourne Genom Hlth Alliance, Melbourne, Vic, Australia
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
0022
引用
收藏
页码:9 / 10
页数:2
相关论文
共 50 条
  • [31] Clinical utility of whole-exome sequencing in rare diseases: Galactosialidosis
    Prada, Carlos E.
    Gonzaga-Jauregui, Claudia
    Tannenbaum, Rebecca
    Penney, Samantha
    Lupski, James R.
    Hopkin, Robert J.
    Sutton, V. Reid
    EUROPEAN JOURNAL OF MEDICAL GENETICS, 2014, 57 (07) : 339 - 344
  • [32] Clinical application of whole-exome sequencing analysis in childhood epilepsy
    Gavaz, Meral
    Aslan, Elif S.
    Tekes, Selahattin
    JOURNAL OF NEUROGENETICS, 2024, 38 (04) : 187 - 194
  • [33] Measuring coverage and accuracy of whole-exome sequencing in clinical context
    Kong, Sek Won
    Lee, In-Hee
    Liu, Xuanshi
    Hirschhorn, Joel N.
    Mandl, Kenneth D.
    GENETICS IN MEDICINE, 2018, 20 (12) : 1617 - 1626
  • [34] Whole-Exome Sequencing Study of Trichotillomania
    Olfson, Emily
    Bloch, Michael
    Fernandez, Thomas
    BIOLOGICAL PSYCHIATRY, 2019, 85 (10) : S223 - S223
  • [35] Whole-exome sequencing in HHT patients
    Giraud, S.
    Lesca, G.
    Auboiroux, C.
    Calender, A.
    Bailly, S.
    Dupuis-Girod, S.
    ANGIOGENESIS, 2018, 21 (01) : 149 - 149
  • [36] Clinical whole-exome sequencing for the diagnosis of Mendelian neuromuscular disorders
    Krenn, M.
    Rath, J.
    Zulehner, G.
    Wagner, M.
    Strom, T-M.
    Stoegmann, E.
    Zimprich, F.
    EUROPEAN JOURNAL OF NEUROLOGY, 2018, 25 : 549 - 549
  • [37] Clinical whole-exome sequencing results impact medical management
    Niguidula, Nancy
    Alamillo, Christina
    Mowlavi, Layla Shahmirzadi
    Powis, Zoe
    Cohen, Julie S.
    Hagman, Kelly D. Farwell
    MOLECULAR GENETICS & GENOMIC MEDICINE, 2018, 6 (06): : 1068 - 1078
  • [38] Whole-exome sequencing study of hypospadias
    Chen, Zhongzhong
    Lei, Yunping
    Finnell, Richard H.
    Ding, Yu
    Su, Zhixi
    Wang, Yaping
    Xie, Hua
    Chen, Fang
    ISCIENCE, 2023, 26 (05)
  • [39] Whole-Exome/Genome Sequencing and Genomics
    Grody, Wayne W.
    Thompson, Barry H.
    Hudgins, Louanne
    PEDIATRICS, 2013, 132 : S211 - S215
  • [40] CAKUT: Diagnosis by Whole-Exome Sequencing
    不详
    NEPHROLOGE, 2018, 13 (01): : 3 - 3