PYRIDOXINE DEPENDENT EPILEPSY: NEW STRATEGIES FOR DIAGNOSIS AND THERAPY

被引:0
|
作者
Rusnakova, S. [1 ]
Ryzi, R. [1 ]
Fajkusova, L. [2 ]
Jansova, E. [2 ]
Sultesova, P. [2 ]
Oslejskova, H. [1 ]
机构
[1] Univ Hosp, Clin Child Neurol, Brno, Czech Republic
[2] Univ Hosp, Ctr Mol Biol & Gene Therapy, Brno, Czech Republic
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
引用
收藏
页码:140 / 140
页数:1
相关论文
共 50 条
  • [41] Congenital cataract in a child with pyridoxine-dependent epilepsy
    Yusuf, Imran H.
    Sandford, Victoria
    Hildebrand, Goeran Darius
    JOURNAL OF AAPOS, 2013, 17 (03): : 315 - 317
  • [42] ATYPICAL PRESENTATION OF PYRIDOXINE-DEPENDENT EPILEPSY REVISITED
    Alghamdi, A.
    Alhakeem, A.
    Alsamman, A.
    Melaiki, B. Tabarki
    EPILEPSIA, 2017, 58 : S78 - S78
  • [43] Pyridoxine Dependent Epilepsy: Enduring Mystery and Continuing Challenges
    Prasad, Asuri N.
    Prasad, Chitra
    CANADIAN JOURNAL OF NEUROLOGICAL SCIENCES, 2012, 39 (04) : 411 - 412
  • [44] Pyridoxine-Dependent Epilepsy: An Expanding Clinical Spectrum
    van Karnebeek, Clara D. M.
    Tiebout, Sylvia A.
    Niermeijer, Jikkemien
    Poll-The, Bwee Tien
    Ghani, Aisha
    Coughlin, Curtis R., II
    Van Hove, Johan L. K.
    Richter, Jost Wigand
    Christen, Hans Juergen
    Gallagher, Renata
    Hartmann, Hans
    Stoclder-Ipsiroglu, Sylvia
    PEDIATRIC NEUROLOGY, 2016, 59 : 6 - 12
  • [45] NOVEL MUTATIONS IN PYRIDOXINE DEPENDENT EPILEPSY IN A CHINESE CHILD
    Yang, Z.
    Yang, X.
    Wang, J.
    Jiang, Y.
    Qin, J.
    EPILEPSIA, 2013, 54 : 194 - 194
  • [46] PYRIDOXINE-DEPENDENT EPILEPSY - AN EXPANDING CLINCAL SPECTRUM
    Mills, P. B.
    Footitt, E. J.
    Chong, W. K.
    Struys, E. A.
    Jakobs, C.
    Clayton, P. T.
    MOLECULAR GENETICS AND METABOLISM, 2009, 98 (1-2) : 17 - 17
  • [47] A case for newborn screening for pyridoxine-dependent epilepsy
    Coughlin II, Curtis R. R.
    Tseng, Laura A.
    van Karnebeek, Clara D. M.
    COLD SPRING HARBOR MOLECULAR CASE STUDIES, 2022, 8 (02):
  • [48] Current Treatment and Management of Pyridoxine-Dependent Epilepsy
    Clara D. M. van Karnebeek
    Sravan Jaggumantri
    Current Treatment Options in Neurology, 2015, 17
  • [49] Feasibility of newborn screening for pyridoxine-dependent epilepsy
    Pauly, Kristine
    Woontner, Michael
    Abdenur, Jose E.
    Chaudhari, Bimal P.
    Gosselin, Rachel
    Kripps, Kimberly A.
    Thomas, Janet A.
    Wempe, Michael F.
    Gospe Jr, Sidney M.
    Coughlin Ii, Curtis R.
    MOLECULAR GENETICS AND METABOLISM, 2025, 144 (01)
  • [50] Pyridoxine-dependent epilepsy initially responsive to phenobarbital
    Lin, Jaime
    Lin, Katia
    Masruha, Marcelo Rodrigues
    Vilanova, Luiz Celso Pereira
    ARQUIVOS DE NEURO-PSIQUIATRIA, 2007, 65 (4A) : 1026 - 1029