Fumaric Aciduria: A Rare Cause of Refractory Epilepsy

被引:1
|
作者
Yoganathan, Sangeetha [1 ]
Srinivasaraghavan, Rangan [2 ]
Kumar, Madhan [2 ]
Kratz, Lisa [5 ]
Mular, Shraddha [3 ]
Sudhakar, Sniya V. [4 ]
Malik, Prateek [4 ]
Chandran, Mahalakshmi [1 ]
Thomas, Maya [1 ]
Danda, Sumita [3 ]
机构
[1] Christian Med Coll & Hosp, Dept Neurol Sci, Vellore, Tamil Nadu, India
[2] Christian Med Coll & Hosp, Dept Child Hlth, Vellore, Tamil Nadu, India
[3] Christian Med Coll & Hosp, Dept Med Genet, Vellore 632004, Tamil Nadu, India
[4] Christian Med Coll & Hosp, Dept Radiodiag, Vellore, Tamil Nadu, India
[5] Kennedy Krieger Inst, Biochem Genet Lab, Baltimore, MD USA
关键词
DEFICIENCY; MUTATION;
D O I
10.4103/aian.aian_47_22
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:738 / +
页数:3
相关论文
共 50 条
  • [1] A rare cause of opistotonus; fumaric aciduria: The first case presentation in Turkey
    Bastug, Osman
    Kardas, Fatih
    Ozturk, Mehmet Adnan
    Halis, Hulya
    Memur, Seyma
    Korkmaz, Levent
    Tag, Zuhal
    Gunes, Tamer
    TURK PEDIATRI ARSIVI-TURKISH ARCHIVES OF PEDIATRICS, 2014, 49 (01): : 74 - 76
  • [2] RARE CAUSE FOR REFRACTORY EPILEPSY AND COGNITIVE DECLINE
    Sirbu, C.
    Popoiu, R.
    Caloianu, I.
    Ionescu, L.
    EPILEPSIA, 2009, 50 : 232 - 232
  • [3] A Rare Cause of Refractory Epilepsy: Posterior Periventricular Nodular Heterotopia
    Direk, Meltem C.
    Komur, Mustafa
    Ozgur, Anil
    Okuyaz, Cetin
    JOURNAL OF PEDIATRIC NEUROSCIENCES, 2018, 13 (03) : 340 - 342
  • [4] DHDDS Mutation: A Rare Cause of Refractory Epilepsy and Hyperkinetic Movement Disorder
    Mehta, Sahil
    Lal, Vivek
    JOURNAL OF MOVEMENT DISORDERS, 2023, 16 (01) : 107 - +
  • [5] Fumaric aciduria: Clinical and imaging features
    Kerrigan, JF
    Aleck, KA
    Tarby, TJ
    Bird, CR
    Heidenreich, RA
    ANNALS OF NEUROLOGY, 2000, 47 (05) : 583 - 588
  • [6] A Rare Congenital Cause of Epilepsy
    Gopal, Neethu
    Jain, Ayushi
    Sandhu, Sukhwinder Johnny S.
    Bhatt, Alok A.
    Middlebrooks, Erik H.
    CUREUS JOURNAL OF MEDICAL SCIENCE, 2020, 12 (10)
  • [7] HYPERINSULINISM - RARE CAUSE OF EPILEPSY
    MULDER, DW
    RUSHTON, JG
    NEUROLOGY, 1959, 9 (04) : 288 - 289
  • [8] PENNYROYAL - A RARE CAUSE OF EPILEPSY
    EARLY, DF
    LANCET, 1961, 2 (720): : 580 - &
  • [9] A rare cause of refractory hypotension
    Mondal, Sudipta
    Garikapati, Vrandha
    Sivadasanpillai, Harikrishnan
    HEART, 2023, 109 (22) : 1669 - 1724
  • [10] FUMARIC ACIDURIA (FA) - AN ORGANIC ACIDURIA ASSOCIATED WITH MITOCHONDRIAL ENCEPHALOMYOPATHY IN INFANCY
    CHAVESCARBALLO, E
    PEDIATRIC RESEARCH, 1987, 21 (04) : A489 - A489