NOVEL MUTATIONS IN PYRIDOXINE DEPENDENT EPILEPSY IN A CHINESE CHILD

被引：0
|
作者：
Yang, Z. [1 ]
Yang, X. [1 ]
Wang, J. [1 ]
Jiang, Y. [1 ]
Qin, J. [1 ]
机构：
[1] Peking Univ, Hosp 1, Beijing 100871, Peoples R China
来源：
EPILEPSIA | 2013年 / 54卷
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：194 / 194
页数：1
相关论文
共 50 条
  • [21] Pyridoxine dependent epilepsy: a suggestive electroclinical pattern
    Baxter, P
    ARCHIVES OF DISEASE IN CHILDHOOD-FETAL AND NEONATAL EDITION, 2000, 83 (02): : F163 - F163
  • [22] BIOCHEMICAL AND GENETIC STUDIES OF SIX PATIENTS WITH PYRIDOXINE-DEPENDENT EPILEPSY: SIX NOVEL MUTATIONS IN THE ALDH7A1 GENE
    Perez, B.
    Ruiz-Sala, P.
    Perez-Cerda, C.
    Merinero, B.
    Desviat, L. R.
    Navarrete, R.
    Solana, L. G.
    Ruiz, M. A.
    Verdu, A.
    Calvo, R.
    Ugarte, M.
    MOLECULAR GENETICS AND METABOLISM, 2009, 98 (1-2) : 124 - 124
  • [23] Callosal alterations in pyridoxine-dependent epilepsy
    Friedman, Seth D.
    Ishak, Gisele E.
    Poliachik, Sandra L.
    Poliakov, Andrew V.
    Otto, Randolph K.
    Shaw, Dennis W. W.
    Willemsen, Michel A.
    Bok, Levinus A.
    Gospe, Sidney M., Jr.
    DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY, 2014, 56 (11): : 1106 - 1110
  • [24] Neurodevelopment Outcome In Pyridoxine-Dependent Epilepsy
    Kamoun, F.
    Charfi, M.
    Bouraoui, A.
    Hamida, N.
    Gouaylia, Y.
    Massoud, L. B.
    Gargouri, A.
    Triki, C.
    EPILEPSIA, 2018, 59 : S181 - S181
  • [25] Gene sleuthing in pyridoxine-dependent epilepsy
    Weckhuysen, Sarah
    Pearl, Phillip L.
    NEUROLOGY, 2015, 85 (09) : 748 - 749
  • [26] Pyridoxine dependent epilepsy characteristic EEG patterns
    The Indian Journal of Pediatrics, 2000, 67 (2) : 86 - 86
  • [27] Pyridoxine-Dependent Epilepsy: not just for neonates
    Svoboda, M. D.
    Ahmad, S.
    Ng, Y. T.
    ANNALS OF NEUROLOGY, 2015, 78 : S178 - S179
  • [28] Pyridoxine dependent epilepsy: a suggestive electroclinical pattern
    Nabbout, R
    Soufflet, C
    Plouin, P
    Dulac, O
    ARCHIVES OF DISEASE IN CHILDHOOD-FETAL AND NEONATAL EDITION, 1999, 81 (02): : F125 - F129
  • [29] Seizure recurrence following pyridoxine withdrawal in a patient with pyridoxine-dependent epilepsy
    Tamaura, Moe
    Shimbo, Hiroko
    Iai, Mizue
    Yamashita, Sumimasa
    Osaka, Hitoshi
    BRAIN & DEVELOPMENT, 2015, 37 (04): : 442 - 445
  • [30] The genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy due to mutations in ALDH7A1
    Scharer, Gunter
    Brocker, Chad
    Vasiliou, Vasilis
    Creadon-Swindell, Geralyn
    Gallagher, Renata C.
    Spector, Elaine
    Van Hove, Johan L. K.
    JOURNAL OF INHERITED METABOLIC DISEASE, 2010, 33 (05) : 571 - 581
12345