CLINICAL HETEROGENEITY AND ITS POTENTIAL THERAPEUTIC IMPLICATIONS IN CHILDREN WITH SCN2A-RELATED DISORDERS

被引：0

作者：

Johannesen, K. M. ^{[1
,2
]}

Wolf, M. ^{[3
]}

Masnada, S. ^{[4
,5
]}

Rubboli, G. ^{[4
,6
]}

Gardella, E. ^{[1
,2
]}

Milh, M. ^{[7
]}

Villard, L. ^{[8
]}

Mignot, C. ^{[9
]}

Lardennois, C. ^{[10
]}

Bourel-Ponchel, E. ^{[11
,12
]}

Nava, C. ^{[9
,12
]}

Lesca, G. ^{[13
,14
]}

Gerard, M. ^{[15
]}

Perrin, L. ^{[16
]}

Doummar, D. ^{[17
]}

Auvin, S. ^{[12
,16
]}

Miranda, M. J. ^{[18
]}

Brilstra, E. ^{[19
]}

Knoers, N. ^{[19
]}

Doecker, M. ^{[20
]}

Bast, T. ^{[21
]}

Loddenkemper, T. ^{[22
]}

Wong-Kisiel, L. ^{[23
]}

Baumeister, F. M. ^{[21
]}

Fazeli, W. ^{[24
]}

Striano, P. ^{[25
]}

Kurlemann, G. ^{[26
]}

Klepper, J. ^{[27
]}

Thoene, J. G. ^{[28
]}

Arndt, D. H. ^{[29
]}

Schmitt-Mechelke, T. ^{[30
]}

Maier, O. ^{[31
]}

Muhle, H. ^{[32
]}

Wical, B. ^{[33
]}

Finetti, C. ^{[25
]}

Brueckner, R. ^{[34
]}

Pietz, J. ^{[34
]}

Golla, G. ^{[34
]}

Jillella, D. ^{[22
]}

Afenjar, A. ^{[17
]}

Linnet, K. M. ^{[35
]}

Charles, P. ^{[16
]}

Oiglane-Slik, E. ^{[36
]}

Mantovani, J. F. ^{[37
]}

Deprez, M. ^{[38
]}

Scalais, E. ^{[39
]}

Lagae, L. ^{[40
]}

Nikanorova, M. ^{[1
]}

Hjalgrim, H. ^{[1
,2
]}

Depienne, C. ^{[41
]}

机构：

[1] Danish Epilepsy Ctr Filadelfia, Dianalund, Denmark

[2] Univ Southern Denmark, Inst Reg Hlth Serv Res, Odense, Denmark

[3] Univ Tubingen, Dept Genet, Tubingen, Germany

[4] C Mondino Natl Neurol Inst, Pavia, Italy

[5] Univ Pavia, Dept Brain & Behav, Pavia, Italy

[6] Univ Copenhagen, Copenhagen, Denmark

[7] Hop Enfants La Timone, Serv Neurol Pediat, Marseille, France

[8] INSERM, Marse, France

[9] Ctr Reference Defiences Intellectuelles Causes Ra, Paris, France

[10] Hop Charles Nicolle, Rouen, France

[11] EFSN Pediat, Laennec, France

[12] INSERM, U1105, Laennec, France

[13] Hosp Civils Lyon, Dept Med Genet, Lyon, France

[14] Univ Lyon, Lyon, France

[15] Serv Genet Clin, Caen, France

[16] Robert Debre Univ Hosp, Paris, France

[17] Hop Trousseau, Paris, France

[18] Dept Pediat, Herlev, Denmark

[19] Univ Med Ctr Utrecht, Utrecht, Netherlands

[20] Univ Hosp Tubingen, Tubingen, Germany

[21] Epilepsy Ctr Kork, Kehl Korg, Germany

[22] Boston Childrens Hosp, Boston, MA USA

[23] Mayo Clin, Rochester, MN USA

[24] Univ Med Ctr Hamburg Eppendorf, Hamburg, Germany

[25] Univ Genoa, G Gaslini Inst, Genoa, Italy

[26] Univ Hosp, Munster, Germany

[27] Hosp Aschaffenburg, Aschaffenburg, Germany

[28] Univ Michigan, Ann Arbor, MI USA

[29] Oakland Univ, William Beaumont Sch Med, Royal Oak, MI USA

[30] Kinderhosp Luzern, Lusern, Switzerland

[31] Childrens Hosp Eastern Switzerland, St Gallen, Switzerland

[32] Univ Med Ctr Schleswig Holstein, Kiel, Germany

[33] Gillette Children Specialty Healthcare, St Paul, MN USA

[34] Univ Kaiserslautern, Kaiserslautern, Germany

[35] Aarhus Univ Hosp, Aarhus, Denmark

[36] Univ Tartu, Tartu, Estonia

[37] St Johns Mercy Med Ctr, St Louis, MT USA

[38] Clin St Elizabeth, Namur, Belgium

[39] Ctr Hosp Luxembourg, Luxembourg, Luxembourg

[40] Univ Hosp Leuven, Campus Gasthuisberg, Leuven, Belgium

[41] Grp Hosp Pitie Salpetriere, Paris, France

[42] Univ Strasbourg, Strasbourg, France

[43] Hop Univ Strasbourg, Strasbourg, France

[44] Univ Hosp Antwerp, Antwerp, Belgium

[45] Human Genet Ctr, Charleroi, Belgium

[46] Schwer Epilepsieklin, Zurich, Switzerland

[47] Ambry Genet, Aliso Viejo, CA USA

[48] VIB, Dept Mol Genet, Antwerp, Belgium

[49] Univ Antwerp, Inst Born Bunge, Antwerp, Belgium

[50] Univ Leipzig, Inst Human Genet, Leipzig, Germany

来源：

EPILEPSIA | 2016年 / 57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：

P369

引用

页码：114 / 115

页数：2

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