EARLY EPILEPTIC ENCEPHALOPATHIES ASSOCIATED WITH STXBP1 MUTATIONS: COULD WE BETTER DEFINE THE PHENOTYPE?

被引：0
|
作者：
Barcia, G. [1 ]
Chemaly, N. [1 ]
Gobin, S. [1 ]
Milh, M. [2 ]
Van Bogaert, P. [3 ]
Barnerias, C. [1 ]
Kaminska, A. [1 ]
Dulac, O. [1 ]
Cormier, V. [1 ]
Boddaert, N. [1 ]
Nabbout, R. [1 ]
机构：
[1] Hop Necker Enfants Malad, Paris, France
[2] Hop La Timone, Marseille, France
[3] Univ Libre Brussels, Hop Erasme, B-1070 Brussels, Belgium
来源：
EPILEPSIA | 2012年 / 53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：
引用
收藏
页码：236 / 236
页数：1
相关论文
共 39 条
  • [1] Early epileptic encephalopathies associated with STXBP1 mutations: Could we better delineate the phenotype?
    Barcia, Giulia
    Chemaly, Nicole
    Gobin, Stephanie
    Milh, Mathieu
    Van Bogaert, Patrick
    Barnerias, Christine
    Kaminska, Anna
    Dulac, Olivier
    Desguerre, Isabelle
    Cormier, Valerie
    Boddaert, Nathalie
    Nabbout, Rima
    EUROPEAN JOURNAL OF MEDICAL GENETICS, 2014, 57 (01) : 15 - 20
  • [2] Clinical spectrum of early-onset epileptic encephalopathies associated with STXBP1 mutations
    Deprez, L.
    Weckhuysen, S.
    Holmgren, P.
    Suls, A.
    Van Dyck, T.
    Goossens, D.
    Del-Favero, J.
    Jansen, A.
    Verhaert, K.
    Lagae, L.
    Jordanova, A.
    Van Coster, R.
    Yendle, S.
    Berkovic, S. F.
    Scheffer, I.
    Ceulemans, B.
    De Jonghe, P.
    NEUROLOGY, 2010, 75 (13) : 1159 - 1165
  • [3] STXBP1 MUTATION SCREENING IN A COHORT OF PATIENTS WITH EARLY ONSET EPILEPTIC ENCEPHALOPATHIES.
    Weckhuysen, S.
    Deprez, L.
    Holmgren, P.
    Verhaert, K.
    An, J.
    Lagae, L.
    Van Paesschen, W.
    Jordanova, A.
    Ceulemans, B.
    De Jonghe, P.
    EPILEPSIA, 2009, 50 : 18 - 18
  • [4] Epileptic and nonepileptic features in patients with early onset epileptic encephalopathy and STXBP1 mutations
    Milh, Mathieu
    Villeneuve, Nathalie
    Chouchane, Mondher
    Kaminska, Anna
    Laroche, Cecile
    Barthez, Marie Anne
    Gitiaux, Cyril
    Bartoli, Celine
    Borges-Correia, Ana
    Cacciagli, Pierre
    Mignon-Ravix, Cecile
    Cuberos, Helene
    Chabrol, Brigitte
    Villard, Laurent
    EPILEPSIA, 2011, 52 (10) : 1828 - 1834
  • [5] EPILEPTIC AND NONEPILEPTIC FEATURES IN PATIENTS WITH EARLY ONSET EPILEPTIC ENCEPHALOPATHY AND STXBP1 MUTATIONS
    Milh, M.
    Villeneuve, N.
    Mondher, C.
    Kaminska, A.
    Larroche, C.
    Gitiaux, C.
    Borges-Correia, A.
    Cacciagli, P.
    Mignon-Ravix, C.
    Cuberos, H.
    Chabrol, B.
    Villard, L.
    EPILEPSIA, 2011, 52 : 17 - 17
  • [6] IDENTIFICATION OF NOVEL SYNTAXIN BINDING PROTEIN 1 (STXBP1) MUTATIONS IN PATIENTS WITH SEVERE EARLY ONSET EPILEPTIC ENCEPHALOPATHIES (EOEE)
    Djemie, T.
    Holmgren, P.
    Weckhuysen, S.
    Suls, A.
    Jansen, A.
    Hasaerts, D.
    Dielman, C.
    Klitten, L. L.
    Von Spiczak, S.
    Helbig, I.
    Moller, R. S.
    Scheffer, I. E.
    Hjalgrim, H.
    De Jonghe, P.
    EPILEPSIA, 2012, 53 : 1 - 1
  • [7] Novel STXBP1 Mutations in 2 Patients With Early Infantile Epileptic Encephalopathy
    Sampaio, Mafalda
    Rocha, Ruben
    Biskup, Saskia
    Leao, Miguel
    JOURNAL OF CHILD NEUROLOGY, 2015, 30 (05) : 622 - 624
  • [8] STXBP1 mutations in early infantile epileptic encephalopathy with suppression-burst pattern
    Saitsu, Hirotomo
    Kato, Mitsuhiro
    Okada, Ippei
    Orii, Kenji E.
    Higuchi, Tsukasa
    Hoshino, Hideki
    Kubota, Masaya
    Arai, Hiroshi
    Tagawa, Tetsuzo
    Kimura, Shigeru
    Sudo, Akira
    Miyama, Sahoko
    Takami, Yuichi
    Watanabe, Toshihide
    Nishimura, Akira
    Nishiyama, Kiyomi
    Miyake, Noriko
    Wada, Takahito
    Osaka, Hitoshi
    Kondo, Naomi
    Hayasaka, Kiyoshi
    Matsumoto, Naomichi
    EPILEPSIA, 2010, 51 (12) : 2397 - 2405
  • [9] De novo mutations of STXBP1 in Chinese children with early onset epileptic encephalopathy
    Li, T.
    Cheng, M.
    Wang, J.
    Hong, S.
    Li, M.
    Liao, S.
    Xie, L.
    Jiang, L.
    GENES BRAIN AND BEHAVIOR, 2018, 17 (08)
  • [10] Loss-of-function mutations of STXBP1 in patients with epileptic encephalopathy
    Yamamoto, Toshiyuki
    Shimojima, Keiko
    Yano, Tamami
    Ueda, Yuki
    Takayama, Rumiko
    Ikeda, Hiroko
    Imai, Katsumi
    BRAIN & DEVELOPMENT, 2016, 38 (03): : 280 - 284
1234