THE PHENOTYPIC SPECTRUM OF SCN8A MUTATIONS AND TREATMENT RESPONSE

被引：0
|
作者：
Johannesen, M. K. [1 ,2 ]
Gardella, E. [1 ,2 ]
Hammer, M. F. [3 ,4 ]
Rubboli, G. [1 ,5 ]
Moller, R. S. [1 ,2 ]
机构：
[1] Danish Epilepsy Ctr, Dianalund, Denmark
[2] Univ Southern Denmark, Inst Reg Hlth Res, Odense, Denmark
[3] Univ Arizona, ARL Div Biotechnol, Tucson, AZ USA
[4] Univ Arizona, Dept Neurol, Tucson, AZ USA
[5] Univ Copenhagen, Copenhagen, Denmark
来源：
EPILEPSIA | 2017年 / 58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：
0037
引用
收藏
页码：S18 / S18
页数：1
相关论文
共 50 条
  • [21] Allelic mutations of the sodium channel SCN8A reveal multiple cellular and physiological functions
    Meisler, MH
    Plummer, NW
    Burgess, DL
    Buchner, DA
    Sprunger, LK
    GENETICA, 2004, 122 (01) : 37 - 45
  • [22] Phenotypic and genetic spectrum of SCN8A-related disorders, treatment options, and outcomes
    Gardella, Elena
    Moller, Rikke S.
    EPILEPSIA, 2019, 60 : S77 - S85
  • [23] Allelic mutations of the sodium channel SCN8A reveal multiple cellular and physiological functions
    Miriam H. Meisler
    Nicholas W. Plummer
    Daniel L. Burgess
    David A. Buchner
    Leslie K. Sprunger
    Genetica, 2004, 122 : 37 - 45
  • [24] De novo and inherited SCN8A epilepsy mutations detected by gene panel analysis
    Butlera, Kameryn M.
    da Silva, Cristina
    Shafir, Yuval
    Weisfeld-Adams, James D.
    Alexander, John J.
    Hegde, Madhuri
    Escayg, Andrew
    EPILEPSY RESEARCH, 2017, 129 : 17 - 25
  • [25] Sleep problems in patients with SCN8A epilepsy
    Furia, Francesca
    Johannesen, Katrine Marie
    Bonardi, Claudia M.
    Savoie, Hillary
    Scarcelli, Cinzia
    Waegner, Roland
    Clay, Ben
    Moeller, Rikke Steensbjerre
    Gardella, Elena
    EPILEPSIA, 2021, 62 : 221 - 221
  • [26] Movement disorders as a part of the SCN8A-phenotypic spectrum
    Valletti, M. Aluffi
    Furia, F.
    Pisati, A.
    Trivasano, M.
    Ortigoza, J. D.
    Johanessen, K.
    Martinez-Mugica Barbosa, O.
    Begona de Azua, B.
    Ribes, A. G.
    Jepsen, B. S.
    Striano, P.
    Olofsson, K.
    Moller, R. S.
    Gardella, E.
    EPILEPSIA, 2022, 63 : 202 - 202
  • [27] SCN8A and Its Related Epileptic Phenotypes
    Pratico, Andrea
    Gulizia, Carmela
    Gangi, Gloria
    Oliva, Claudia
    Romano, Catia
    Marino, Simona
    Polizzi, Agata
    Ruggieri, Martino
    Falsaperla, Raffaele
    JOURNAL OF PEDIATRIC NEUROLOGY, 2023, 21 (03) : 186 - 196
  • [28] SCN8A encephalopathy: Research progress and prospects
    Meisler, Miriam H.
    Helman, Guy
    Hammer, Michael F.
    Fureman, Brandy E.
    Gaillard, William D.
    Goldin, Alan L.
    Hirose, Shinichi
    Ishii, Atsushi
    Kroner, Barbara L.
    Lossin, Christoph
    Mefford, Heather C.
    Parent, Jack M.
    Patel, Manoj
    Schreiber, John
    Stewart, Randall
    Whittemore, Vicky
    Wilcox, Karen
    Wagnon, Jacy L.
    Pearl, Phillip L.
    Vanderver, Adeline
    Scheffer, Ingrid E.
    EPILEPSIA, 2016, 57 (07) : 1027 - 1035
  • [29] The phenotype of SCN8A developmental and epileptic encephalopathy
    Gardella, Elena
    Marini, Carla
    Trivisano, Marina
    Fitzgerald, Mark P.
    Alber, Michael
    Howell, Katherine B.
    Darra, Francesca
    Siliquini, Sabrina
    Bolsterli, Bigna K.
    Masnada, Silva
    Pichiecchio, Anna
    Johannesen, Katrine M.
    Jepsen, Birgit
    Fontana, Elena
    Anibaldi, Gaia
    Russo, Silvia
    Cogliati, Francesca
    Montomoli, Martino
    Specchio, Nicola
    Rubboli, Guido
    Veggiotti, Pierangelo
    Beniczky, Sandor
    Wolff, Markus
    Helbig, Ingo
    Vigevano, Federico
    Scheffer, Ingrid E.
    Guerrini, Renzo
    Moller, Rikke S.
    NEUROLOGY, 2018, 91 (12) : E1112 - E1124
  • [30] SCN8A mutations in Chinese patients with early onset epileptic encephalopathy and benign infantile seizures
    Wang, Jiaping
    Gao, Hua
    Bao, Xinhua
    Zhang, Qingping
    Li, Jiarui
    Wei, Liping
    Wu, Xiru
    Chen, Yan
    Yu, Shujie
    BMC MEDICAL GENETICS, 2017, 18
12345