A Novel MT-TW Gene Mutation Associated with Suspected Pyridoxine-Responsive Epilepsy

被引:0
|
作者
Elaasar, H.
Tuttrup, G.
Pence, K.
机构
关键词
Neurogenetics; Epilepsy; Neonatal Neurology;
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
220
引用
收藏
页码:S105 / S105
页数:1
相关论文
共 50 条
  • [1] Myoclonus epilepsy, retinitis pigmentosa, leukoencephalopathy and cerebral calcifications associated with a novel m.5513G>A mutation in the MT-TW gene
    Cardaioli, Elena
    Mignarri, Andrea
    Cantisani, Teresa Anna
    Malandrini, Alessandro
    Nesti, Claudia
    Rubegni, Anna
    Funel, Niccola
    Federico, Antonio
    Santorelli, Filippo Maria
    Dotti, Maria Teresa
    BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 2018, 500 (02) : 158 - 162
  • [2] Pyridoxine-Responsive Seizures in Infantile Hypophosphatasia and a Novel Homozygous Mutation in ALPL Gene
    Nur, Banu Guzel
    Celmeli, Gamze
    Manguoglu, Esra
    Soyucen, Erdogan
    Bircan, Iffet
    Mihci, Ercan
    JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY, 2016, 8 (03) : 360 - 364
  • [3] Case Report: Mitochondrial Encephalomyopathy Presents as Epilepsy, Ataxia, and Dystonia With a Rare Mutation in MT-TW
    Wang, Shuang
    Miao, Jing
    Feng, Jiachun
    FRONTIERS IN NEUROLOGY, 2021, 12
  • [4] Long-term outcome in pyridoxine-responsive infantile epilepsy
    Riikonen, R.
    Mankinen, K.
    Gaily, E.
    EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY, 2015, 19 (06) : 647 - 651
  • [5] Pyridoxine responsive epilepsy caused by a novel homozygous PNPO mutation
    Jaeger, B.
    Abeling, N. G.
    Salomons, G. S.
    Struys, E. A.
    Simas-Mendes, M.
    Geukers, V. G.
    Poll-The, B. T.
    MOLECULAR GENETICS AND METABOLISM REPORTS, 2016, 6 : 60 - 63
  • [6] Early onset and severe clinical course associated with the m.5540G>A mutation in MT-TW
    Granadillo, Jorge L.
    Moss, Timothy
    Lewis, Richard A.
    Austin, Elise G.
    Kelfer, Howard
    Wang, Jing
    Wong, Lee-Jun C.
    Scaglia, Fernando
    MOLECULAR GENETICS AND METABOLISM REPORTS, 2014, 1 : 61 - 65
  • [7] A novel mutation of the erythroid-specific δ-aminolevulinate synthase gene in a patient with non-inherited pyridoxine-responsive sideroblastic anemia
    Harigae, H
    Furuyama, K
    Kudo, K
    Hayashi, N
    Yamamoto, M
    Sassa, S
    Sasaki, T
    AMERICAN JOURNAL OF HEMATOLOGY, 1999, 62 (02) : 112 - 114
  • [8] Haemochromatosis Cys282Tyr mutation in pyridoxine-responsive sideroblastic anaemia
    Yaouanq, J
    Grosbois, B
    Jouanolle, AM
    Goasguen, J
    Leblay, R
    LANCET, 1997, 349 (9063): : 1475 - 1476
  • [9] CBS gene mutations found in a Chinese pyridoxine-responsive homocystinuria patient
    Kwok, Jeffrey Sung-Shing
    Fung, Simon Loi-Mo
    Lui, Grace Chung-Yan
    Law, Eric Lap-Kay
    Chan, Michael Ho-Ming
    Leung, Chi-Bon
    Tang, Nelson Leung-Sang
    PATHOLOGY, 2011, 43 (01) : 81 - 83
  • [10] PYRIDOXINE-RESPONSIVE HYPER-BETA-ALANINEMIA ASSOCIATED WITH COHENS SYNDROME
    HIGGINS, JJ
    KANESKI, CR
    BERNARDINI, I
    BRADY, RO
    BARTON, NW
    NEUROLOGY, 1994, 44 (09) : 1728 - 1732