A Second Patient with a De Novo GABRB1 Mutation and Epileptic Encephalopathy Reply

被引:0
|
作者
Janve, Vaishali S. [1 ]
Hernandez, Ciria C. [2 ]
Verdier, Kelienne M. [2 ]
Hu, Ningning [2 ]
Macdonald, Robert L. [2 ]
机构
[1] Vanderbilt Univ, Grad Program Neurosci, 221 Kirkland Hall, Nashville, TN 37235 USA
[2] Vanderbilt Univ, Dept Neurol, 221 Kirkland Hall, Nashville, TN 37235 USA
关键词
D O I
10.1002/ana.24701
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:312 / 313
页数:3
相关论文
共 50 条
  • [31] De novo mutations in HCN1 cause early infantile epileptic encephalopathy
    Caroline Nava
    Carine Dalle
    Agnès Rastetter
    Pasquale Striano
    Carolien G F de Kovel
    Rima Nabbout
    Claude Cancès
    Dorothée Ville
    Eva H Brilstra
    Giuseppe Gobbi
    Emmanuel Raffo
    Delphine Bouteiller
    Yannick Marie
    Oriane Trouillard
    Angela Robbiano
    Boris Keren
    Dahbia Agher
    Emmanuel Roze
    Suzanne Lesage
    Aude Nicolas
    Alexis Brice
    Michel Baulac
    Cornelia Vogt
    Nady El Hajj
    Eberhard Schneider
    Arvid Suls
    Sarah Weckhuysen
    Padhraig Gormley
    Anna-Elina Lehesjoki
    Peter De Jonghe
    Ingo Helbig
    Stéphanie Baulac
    Federico Zara
    Bobby P C Koeleman
    Thomas Haaf
    Eric LeGuern
    Christel Depienne
    Nature Genetics, 2014, 46 : 640 - 645
  • [32] A patient with early myoclonic encephalopathy (EME) with a de novo KCNQ2 mutation
    Kojima, Karin
    Shirai, Kentaro
    Kobayashi, Mizuki
    Miyauchi, Akihiko
    Saitsu, Hirotomo
    Matsumoto, Naomichi
    Osaka, Hitoshi
    Yamagata, Takanori
    BRAIN & DEVELOPMENT, 2018, 40 (01): : 69 - 73
  • [33] A De Novo Dominant Negative Mutation in DNM1L Causes Sudden Onset Status Epilepticus with Subsequent Epileptic Encephalopathy
    Schmid, S. J.
    Wagner, M.
    Goetz, C.
    Makowski, C.
    Freisinger, P.
    Berweck, S.
    Mall, V.
    Burdach, S.
    Juenger, H.
    NEUROPEDIATRICS, 2019, 50 (03) : 197 - 201
  • [34] A novel de novo dominant negative mutation in DNM1L impairs mitochondrial fission and presents as childhood epileptic encephalopathy
    Fahrner, Jill A.
    Liu, Raymond
    Perry, Michael Scott
    Klein, Jessica
    Chan, David C.
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2016, 170 (08) : 2002 - 2011
  • [35] A novel de novo nonsense mutation in STXBP1 found in child diagnosed with early infantile epileptic encephalopathy type 4
    Belenikin, M.
    Lukyanova, E.
    Ayvazyan, S.
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2019, 27 : 273 - 273
  • [36] De novo mutation of PHEX in a type 1 diabetes patient
    Fang, Chen
    Li, Hui
    Li, Xiaozhen
    Xiao, Wenjin
    Huang, Yun
    Cai, Wu
    Yang, Yi
    Hu, Ji
    JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, 2016, 29 (05): : 621 - 626
  • [37] De novo NSF mutations cause early infantile epileptic encephalopathy
    Suzuki, Hisato
    Yoshida, Takeshi
    Morisada, Naoya
    Uehara, Tomoko
    Kosaki, Kenjiro
    Sato, Katsunori
    Matsubara, Kohei
    Takano-Shimizu, Toshiyuki
    Takenouchi, Toshiki
    ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY, 2019, 6 (11): : 2334 - 2339
  • [38] De novo NSF mutations cause early infantile epileptic encephalopathy
    Suzuki, H.
    Yoshida, T.
    Morisada, N.
    Uehara, T.
    Kosaki, K.
    Takano-Shimizu, T.
    Takenouchi, T.
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2020, 28 (SUPPL 1) : 409 - 409
  • [39] De novo mutations of STXBP1 in Chinese children with early onset epileptic encephalopathy
    Li, T.
    Cheng, M.
    Wang, J.
    Hong, S.
    Li, M.
    Liao, S.
    Xie, L.
    Jiang, L.
    GENES BRAIN AND BEHAVIOR, 2018, 17 (08)
  • [40] Three de novo chromosome abnormalities and a de novo NF1 mutation in a single patient
    Smith, Kath
    Clouston, H.
    Upadhyaya, M.
    Sobey, G.
    Quarrell, O.
    Maltby, E.
    JOURNAL OF MEDICAL GENETICS, 2008, 45 : S96 - S96