Tremor and frontal epilepsy secondary to gain-of-function mutation in SCN8A: a case report

被引：0
|
作者：
Lafuente Gomez, G. [1 ]
Sanchez de Puerta, C. De Miguel [1 ]
Leal Hidalgo, R. [1 ]
Vazquez Lopez, M. [2 ]
Barredo Valderrama, E. [2 ]
Chacon Pascual, A. [2 ]
Castro De Castro, P. [2 ]
Miranda Herrero, M. [2 ]
机构：
[1] Neurol Hosp Gen Univ Gregorio Maranon, Madrid, Spain
[2] Hosp Gen Univ Gregorio Maranon, Paediat Neurol, Madrid, Spain
来源：
EUROPEAN JOURNAL OF NEUROLOGY | 2022年 / 29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：
EPO-666
引用
收藏
页码：803 / 803
页数：1
相关论文
共 50 条
  • [41] Successful pregnancy outcome in a woman with a gain-of-function mutation of the calcium-sensing receptor -: A case report
    Gherman, RB
    Bowen, E
    Eggleston, MK
    Teague, KE
    Sayles, LTT
    Brown, EM
    Pollak, MR
    JOURNAL OF REPRODUCTIVE MEDICINE, 1999, 44 (08) : 745 - 747
  • [42] STAT 1 GAIN-OF-FUNCTION MUTATION IN PATIENT WITH VISCERAL LEISHMANIASIS AND SECONDARY HEMOPHAGOCYTIC LYMPHOHYSTIOCITOSIS
    Lyra Marques, Paula Teixeira
    Augusto Moura Falcao, Ana Carla
    Oliveira Filho, Joao Bosco
    JOURNAL OF CLINICAL IMMUNOLOGY, 2017, 37 (02) : 263 - 264
  • [43] SLEEP ABNORMALITIES IN A 15-YEAR-OLD BOY WITH EPILEPTIC ENCEPHALOPATHY AND SCN8A MUTATION - A CASE STUDY
    Avramov, K.
    Georgiev, T.
    Draganova, A.
    Alexiev, F.
    Terziyski, K.
    SLEEP MEDICINE, 2024, 115 : 239 - 240
  • [44] Gain-of-Function Mutation of the SCN5A Gene Causes Exercise-Induced Polymorphic Ventricular Arrhythmias
    Swan, Heikki
    Amarouch, Mohamed Yassine
    Leinonen, Jaakko
    Marjamaa, Annukka
    Kucera, Jan P.
    Laitinen-Forsblom, Pavi J.
    Lahtinen, Annukka M.
    Palotie, Aarno
    Kontula, Kimmo
    Toivonen, Lauri
    Abriel, Hugues
    Widen, Elisabeth
    CIRCULATION-CARDIOVASCULAR GENETICS, 2014, 7 (06) : 771 - U111
  • [45] Case Report: Novel STIM1 Gain-of-Function Mutation in a Patient With TAM/STRMK and Immunological Involvement
    de la Fuente-munoz, Eduardo
    van den Rym, Ana
    Garcia-Solis, Blanca
    Grullon, Juliana Ochoa
    Guevara-Hoyer, Kissy
    Fernandez-Arquero, Miguel
    Davila, Lucia Galan
    Matias-Guiu, Jorge
    Sanchez-Ramon, Silvia
    de Diego, Rebeca Perez
    FRONTIERS IN IMMUNOLOGY, 2022, 13
  • [46] Novel ACOX1 Gain-of-function Mutation: A Case Report of Mixed Neurodegenerative and Systemic Inflammatory Phenotype
    Swartwood, S.
    Liu, S.
    Nelson, G.
    ANNALS OF NEUROLOGY, 2021, 90 : S120 - S120
  • [47] Hemophagocytic lymphohistiocytosis caused by STAT1 gain-of-function mutation is not driven by interferon-γ: A case report
    Liu, Nan
    Zhao, Fen-Ying
    Xu, Xiao-Jun
    WORLD JOURNAL OF CLINICAL CASES, 2020, 8 (23) : 6130 - 6135
  • [48] Case report: A novel de novo variant of SCN8A in a child with benign convulsions with mild gastroenteritis
    Chen, Hui
    Li, Xiaoyan
    Wu, Huaping
    Sun, Xiaolan
    Che, Yuanyuan
    Zha, Jian
    Wang, Ruiyan
    Yu, Xiongying
    Chen, Yong
    Zhong, Jianmin
    FRONTIERS IN NEUROLOGY, 2022, 13
  • [49] Antisense oligonucleotide therapy reduces seizures and extends life span in an SCN2A gain-of-function epilepsy model
    Li, Melody
    Jancovski, Nikola
    Jafar-Nejad, Paymaan
    Burbano, Lisseth E.
    Rollo, Ben
    Richards, Kay
    Drew, Lisa
    Sedo, Alicia
    Heighway, Jacqueline
    Pachernegg, Svenja
    Soriano, Armand
    Jia, Linghan
    Blackburn, Todd
    Roberts, Blaine
    Nemiroff, Alex
    Dalby, Kelley
    Maljevic, Snezana
    Reid, Christopher A.
    Rigo, Frank
    Petrou, Steven
    JOURNAL OF CLINICAL INVESTIGATION, 2021, 131 (23):
  • [50] Gain-of-function mutation in SCN11A causes itch and affects neurogenic inflammation and muscle function in Scn11a+/L799P mice
    Ebbinghaus, Matthias
    Tuchscherr, Lorena
    von Banchet, Gisela Segond
    Liebmann, Lutz
    Adams, Volker
    Gajda, Mieczyslaw
    Hubner, Christian A.
    Kurth, Ingo
    Schaible, Hans-Georg
    PLOS ONE, 2020, 15 (08):
12345