GABAERGIC NEURONS AND DYSFUNCTION OF NAV1.1 (SCN1A) SODIUM CHANNEL

被引:0
|
作者
Mantegazza, M. [1 ,2 ]
机构
[1] IPMC IN2M, Valbonne, France
[2] Ist Neurol Besta, Dept Neurophysiopathol, Milan, Italy
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:6 / 6
页数:1
相关论文
共 50 条
  • [1] Pure haploinsufficiency for Dravet syndrome NaV1.1 (SCN1A) sodium channel truncating mutations
    Bechi, Giulia
    Scalmani, Paolo
    Schiavon, Emanuele
    Rusconi, Raffaella
    Franceschetti, Silvana
    Mantegazza, Massimo
    EPILEPSIA, 2012, 53 (01) : 87 - 100
  • [2] A Rescuable Folding Defective Nav1.1 (SCN1A) Sodium Channel Mutant Causes GEFS plus : Common Mechanism in Nav1.1 Related Epilepsies?
    Rusconi, Raffaella
    Combi, Romina
    Cestele, Sandrine
    Grioni, Daniele
    Franceschetti, Silvana
    Dalpra, Leda
    Mantegazza, Massimo
    HUMAN MUTATION, 2009, 30 (07) : E747 - E760
  • [3] Identification of an Nav1.1 sodium channel (SCN1A) loss-of-function mutation associated with familial simple febrile seizures
    Mantegazza, M
    Gambardella, A
    Rusconi, R
    Schiavon, E
    Annesi, F
    Cassulini, RR
    Labate, A
    Carrideo, S
    Chifari, R
    Canevini, MP
    Canger, R
    Franceschetti, S
    Annesi, G
    Wanke, E
    Quattrone, A
    PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2005, 102 (50) : 18177 - 18182
  • [4] SCN1A intronic variants impact on Nav1.1 protein expression and sodium channel function, and associated with epilepsy phenotypic severity
    Ji, Jingjing
    Zhou, Xijing
    Lu, Yanting
    Shen, Lang
    Li, Lixia
    Chen, Zirong
    Shi, Yiwu
    Liao, Weiping
    Yu, Lu
    GENE, 2025, 932
  • [5] Effect of SCN1A intronic variants on Nav1.1 protein expression and sodium channel function and its correlation with epilepsy phenotype severity
    Yu, L.
    Ji, J-J
    Zhou, X-J
    Tang, B.
    Shi, Y-W
    EPILEPSIA, 2023, 64 : 542 - 543
  • [6] Modeling NaV1.1/SCN1A sodium channel mutations in a microcircuit with realistic ion concentration dynamics suggests differential GABAergic mechanisms leading to hyperexcitability in epilepsy and hemiplegic migraine
    Lemaire, Louisiane
    Desroches, Mathieu
    Krupa, Martin
    Pizzamiglio, Lara
    Scalmani, Paolo
    Mantegazza, Massimo
    PLOS COMPUTATIONAL BIOLOGY, 2021, 17 (07)
  • [7] Single-channel properties of human NaV1.1 and mechanism of channel dysfunction in SCN1A-associated epilepsy
    Vanoye, CG
    Lossin, C
    Rhodes, TH
    George, AL
    JOURNAL OF GENERAL PHYSIOLOGY, 2006, 127 (01): : 1 - 14
  • [8] Differential Regulation of Nav1.1 and SCN1A Disease Mutant Sodium Current Properties by Fibroblast Growth Factor Homologous Factors
    Frazee, Ashley
    Zybura, Agnes
    Cummins, Theodore R.
    CELLS, 2025, 14 (04)
  • [9] SCN1A/NaV1.1 channelopathies: Mechanisms in expression systems, animal models, and human iPSC models
    Mantegazza, Massimo
    Broccoli, Vania
    EPILEPSIA, 2019, 60 : S25 - S38
  • [10] Targeting upstream open reading frames of SCN1A to boost translation of Nav1.1 in Dravet Syndrome
    Safran, J.
    Loughman, A.
    Lin, G.
    Vaid, S.
    Dang, L.
    ANNALS OF NEUROLOGY, 2022, 92 : S72 - S72