Nodular heterotopia: a rare finding in patients with epilepsy and SCN1A mutation

被引：0
|
作者：
Pereira Klettenberg, Matheus Rocha [1 ]
Rodrigues, Victor Alves [1 ]
de Carvalho Bispo, Diogenes Diego [1 ]
Lobao Cunha, Paulo Emidio [1 ]
Ferreira, Lisiane Seguti [1 ]
机构：
[1] Univ Brasilia, Fac Med, Brasilia, DF, Brazil
来源：
ARQUIVOS DE NEURO-PSIQUIATRIA | 2021年 / 79卷 / 10期
关键词：
D O I：
10.1590/0004-282X-ANP-2021-0084
中图分类号：
Q189 [神经科学];
学科分类号：
071006 ;
摘要：
引用
收藏
页码：936 / 937
页数：2
相关论文
共 50 条
  • [21] A novel mutation of the sodium channel SCN1A in the epilepsy syndrome GEFS plus .
    MacDonald, BT
    Escayg, A
    Spampanato, J
    Montalenti, E
    Benna, P
    Goldin, AL
    Meisler, MH
    AMERICAN JOURNAL OF HUMAN GENETICS, 2001, 69 (04) : 600 - 600
  • [22] Generation of the SCN1A epilepsy mutation in hiPS cells using the TALEN technique
    Wanjuan Chen
    Jingxin Liu
    Longmei Zhang
    Huijuan Xu
    Xiaogang Guo
    Sihao Deng
    Lipeng Liu
    Daiguan Yu
    Yonglong Chen
    Zhiyuan Li
    Scientific Reports, 4
  • [23] Novel mutation of SCN1A in familial generalized epilepsy with febrile seizures plus
    Li, Nan
    Zhang, Jie
    Guo, Ji-feng
    Yan, Xin-xiang
    Xia, Kun
    Tang, Bei-sha
    NEUROSCIENCE LETTERS, 2010, 480 (03) : 211 - 214
  • [24] Generation of the SCN1A epilepsy mutation in hiPS cells using the TALEN technique
    Chen, Wanjuan
    Liu, Jingxin
    Zhang, Longmei
    Xu, Huijuan
    Guo, Xiaogang
    Deng, Sihao
    Liu, Lipeng
    Yu, Daiguan
    Chen, Yonglong
    Li, Zhiyuan
    SCIENTIFIC REPORTS, 2014, 4
  • [25] Somatosensory reflex seizures in a child with epilepsy related to novel SCN1A mutation
    Pinar Arican
    Nihal Olgac Dundar
    Dilek Cavusoglu
    Taha Resid Ozdemır
    Pinar Gencpinar
    Child's Nervous System, 2017, 33 : 677 - 680
  • [26] Partial and generalized epilepsy with febrile seizures plus and a novel SCN1A mutation
    Abou-Khalil, B
    Ge, Q
    Desai, R
    Ryther, R
    Bazyk, A
    Bailey, R
    Haines, JL
    Sutcliffe, JS
    George, AL
    NEUROLOGY, 2001, 57 (12) : 2265 - 2272
  • [27] Mutation searching in SCN1A: Implications for management of SMEI patients
    Birch, Rachael
    Zuberi, S. M.
    Stenhouse, S.
    Kelly, J. G.
    Conlin, L.
    JOURNAL OF MEDICAL GENETICS, 2006, 43 : S88 - S88
  • [28] 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
  • [29] Integrity of the corpus callosum in patients with periventricular nodular heterotopia related epilepsy by FLNA mutation
    Liu, Wenyu
    An, Dongmei
    Niu, Running
    Gong, Qiyong
    Zhou, Dong
    NEUROIMAGE-CLINICAL, 2018, 17 : 109 - 114
  • [30] SCN1A promoter regulation and implications in epilepsy
    Pagni, S.
    Custodio, H. Martins
    Mudge, J. M.
    Frankish, A.
    Mills, J. D.
    Sisodiya, S. M.
    EPILEPSIA, 2024, 65 : 35 - 36
12345