Leigh Syndrome and SURF1 Gene Presenting with Febrile Seizure

被引:1
|
作者
Panda, Prateek Kumar [1 ]
Sharawat, Indar Kumar [1 ]
Sharma, Vishakha [1 ]
Sherwani, Poonam [2 ]
机构
[1] All India Inst Med Sci, Dept Pediat, Pediat Neurol Div, Rishikesh 249203, Uttarakhand, India
[2] All India Inst Med Sci, Dept Radiodiag & Imaging, Rishikesh, Uttarakhand, India
关键词
D O I
10.4103/aian.AIAN_567_20
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:251 / 252
页数:2
相关论文
共 50 条
  • [31] SURF1 related Leigh syndrome: Clinical and molecular findings of 16 patients from Turkey
    Kose, Melis
    Canda, Ebru
    Kagnici, Mehtap
    Aykut, Ayca
    Adebali, Ogun
    Durmaz, Asude
    Bircan, Aylin
    Diniz, Gulden
    Eraslan, Cenk
    Kose, Engin
    Unalp, Aycan
    Yilmaz, Unsal
    Ozyilmaz, Berk
    Ozdemir, Taha Resid
    Atik, Tahir
    Ucar, Sema Kalkan
    McFarland, Robert
    Taylor, Robert W.
    Brown, Garry K.
    Coker, Mahmut
    Ozkinay, Ferda
    MOLECULAR GENETICS AND METABOLISM REPORTS, 2020, 25
  • [32] Compulsory hyperventilation and hypocapnia of patients with Leigh syndrome associated with SURF1 gene mutations as a cause of low serum bicarbonates
    Pronicka, E
    Piekutowska-Abramczuk, DH
    Popowska, E
    Pronicki, M
    Karczmarewicz, E
    Sykut-Cegielskâ, Y
    Taybert, J
    JOURNAL OF INHERITED METABOLIC DISEASE, 2001, 24 (07) : 707 - 714
  • [33] Decreased affinity to oxygen of cytochrome c oxidase in Leigh syndrome caused by SURF1 mutations
    Pecina, P
    Gnaiger, E
    Zeman, J
    Pronicka, E
    Houstk, J
    BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS, 2004, 1658 : 209 - 209
  • [34] Functional alteration of cytochrome c oxidase by SURF1 mutations in Leigh syndrome at normoxia and hypoxia
    Houstek, J
    Pecina, P
    Capkova, M
    Gnaiger, E
    Dubot, A
    Vojtiskova, A
    Hansikova, H
    Houstkova, H
    Zeman, J
    Godinot, C
    Pronicka, E
    BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS, 2004, 1657 : 39 - 39
  • [35] Pathogenicity of missense mutations in SURF1 deficiency inducing the Leigh syndrome.: Importance in diagnosis
    Dubot, A
    Hervouet, E
    Mandon, G
    Zabot, MT
    Godinot, C
    MITOCHONDRION, 2004, 4 (01) : 41 - 47
  • [36] SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome
    Zhu, ZQ
    Yao, JB
    Johns, T
    Fu, K
    De Bie, I
    MacMillan, C
    Cuthbert, AP
    Newbold, RF
    Wang, JC
    Chevrette, M
    Brown, GK
    Brown, RM
    Shoubridge, EA
    NATURE GENETICS, 1998, 20 (04) : 337 - 343
  • [37] Expression and functional analysis of SURF1 in Leigh syndrome patients with cytochrome c oxidase deficiency
    Yao, JB
    Shoubridge, EA
    HUMAN MOLECULAR GENETICS, 1999, 8 (13) : 2541 - 2549
  • [38] SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome
    Zhiqing Zhu
    Jianbo Yao
    Timothy Johns
    Katherine Fu
    Isabelle De Bie
    Carol Macmillan
    Andrew P. Cuthbert
    Robert F. Newbold
    Jia-chi Wang
    Mario Chevrette
    Garry K. Brown
    Ruth M. Brown
    Eric A. Shoubridge.
    Nature Genetics, 1998, 20 : 337 - 343
  • [39] Facial dysmorphism, hirsutism, and failure to thrive as manifestation of Leigh syndrome in a child with SURF1 mutation
    Baskaran, Dhinesh
    Hussain, Nahin
    JOURNAL OF PEDIATRIC NEUROSCIENCES, 2020, 15 (02) : 108 - 110
  • [40] Novel SURF1 mutation in a child with subacute encephalopathy and without the radiological features of Leigh syndrome
    Salviati, L
    Freehauf, C
    Sacconi, S
    DiMauro, S
    Thoma, J
    Tsai, ACH
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2004, 128A (02) : 195 - 198