Investigation of SCN1A poison exons in epilepsy

被引：0
|
作者：
Sparber, Peter [1 ]
Bychkov, Igor [1 ]
Pyankov, Denis [2 ]
Skoblov, Mikhail [1 ]
机构：
[1] Med Genet Res Ctr, Moscow, Russia
[2] Genomed Ltd, Moscow, Russia
来源：
EUROPEAN JOURNAL OF HUMAN GENETICS | 2023年 / 31卷
关键词：
D O I：
暂无
中图分类号：
Q5 [生物化学]; Q7 [分子生物学];
学科分类号：
071010 ; 081704 ;
摘要：
P21.016.D
引用
收藏
页码：655 / 655
页数：1
相关论文
共 50 条
  • [21] Nonfunctional SCN1A is common in severe myoclonic epilepsy of infancy
    Ohmori, Iori
    Kahlig, Kristopher M.
    Rhodes, Thomas H.
    Wang, Dao W.
    George, Alfred L., Jr.
    EPILEPSIA, 2006, 47 (10) : 1636 - 1642
  • [22] The identifying in SCN1A gene a novel variants associated with epilepsy
    Belenikin, M.
    Slavokhotova, A.
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2019, 27 : 970 - 971
  • [23] POLYMORPHISM IN SCN1A GENE IS NOT ASSOCIATED WITH DRUG RESISTANCE IN EPILEPSY
    Handoko, K.
    Majoie, M.
    Hermans, M.
    Zwart, J.
    Hermens, W.
    Egberts, T.
    Hekster, C.
    EPILEPSIA, 2009, 50 : 214 - 214
  • [24] Reduction of Kcnt1 is therapeutic in mouse models of SCN1A and SCN8A epilepsy
    Hill, Sophie F.
    Jafar-Nejad, Paymaan
    Rigo, Frank
    Meisler, Miriam H.
    FRONTIERS IN NEUROSCIENCE, 2023, 17
  • [25] Nodular heterotopia: a rare finding in patients with epilepsy and SCN1A mutation
    Pereira Klettenberg, Matheus Rocha
    Rodrigues, Victor Alves
    de Carvalho Bispo, Diogenes Diego
    Lobao Cunha, Paulo Emidio
    Ferreira, Lisiane Seguti
    ARQUIVOS DE NEURO-PSIQUIATRIA, 2021, 79 (10) : 936 - 937
  • [26] SCN1A mutation mosaicism in a family with severe myoclonic epilepsy in infancy
    Morimoto, Masafumi
    Mazaki, Emi
    Nishimura, Akira
    Chiyonobu, Tomohiro
    Sawai, Yasuko
    Murakami, Aki
    Nakamura, Keiko
    Inoue, Ikuyo
    Ogiwara, Ikuo
    Sugimoto, Tohru
    Yamakawa, Kazuhiro
    EPILEPSIA, 2006, 47 (10) : 1732 - 1736
  • [27] Four generations of epilepsy caused by an inherited microdeletion of the SCN1A gene
    Suls, A.
    Velizarova, R.
    Yordanova, I.
    Deprez, L.
    Van Dyck, T.
    Wauters, J.
    Guergueltcheva, V.
    Claes, L. R. F.
    Kremensky, I.
    Jordanova, A.
    De Jonghe, P.
    NEUROLOGY, 2010, 75 (01) : 72 - 76
  • [28] Association between SCN1A polymorphism and carbamazepine-resistant epilepsy
    Abe, Tomohide
    Seo, Takayuki
    Ishitsu, Takateru
    Nakagawa, Takehiro
    Hori, Masaharu
    Nakagawa, Kazuko
    BRITISH JOURNAL OF CLINICAL PHARMACOLOGY, 2008, 66 (02) : 304 - 307
  • [29] Case Report: Favorable response to carbamazepine in SCN1A related epilepsy
    Klettenberg, Matheus
    Rodrigues, Victor
    Correia, Paulo
    Ferreira, Lisiane
    JOURNAL OF THE NEUROLOGICAL SCIENCES, 2021, 429 : 141 - 141
  • [30] Mosaic SCN1A mutation in familial severe myoclonic epilepsy of infancy
    Marini, Carla
    Mei, Davide
    Cross, J. Helen
    Guerrini, Renzo
    EPILEPSIA, 2006, 47 (10) : 1737 - 1740
12345