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

共 50 条

[41] Impulse control disorders in eating disorders:: clinical and therapeutic implications
Fernandez-Aranda, Fernando
Jimenez-Murcia, Susana
Alvarez-Moya, Eva M.
Granero, Roser
Vallejo, Julio
Bulik, Cynthia M.
COMPREHENSIVE PSYCHIATRY, 2006, 47 (06) : 482 - 488
[42] Clinical use of fenfluramine in adults with SCN1A-related disorders
Thygesen, K.
Marjanovic, D.
Moller, R. S.
EPILEPSIA, 2023, 64 : 322 - 322
[43] Development of Therapeutic Strategies for SCN2A Mutation Related Disorders Using New In Vitro Modeling Techniques
Rodriguez, Yacidzohara
Dennys-Rivers, Cassandra
Ray, Shrestha Sinha
Roussel, Florence
Rodrigo, Rochelle
Lesman, Daniel
Gaffney, Caleb
Hartlaub, Annalisa
Meyer, Kathrin
Wein, Nicolas
MOLECULAR THERAPY, 2020, 28 (04) : 484 - 484
[44] Hepcidin and its therapeutic potential in neurodegenerative disorders
Qian, Zhong-Ming
Ke, Ya
MEDICINAL RESEARCH REVIEWS, 2020, 40 (02) : 633 - 653
[45] Novel approaches to measuring cognition in individuals with severe to profound functional impairment: A pilot study in SCN2A-related disorder
Ludwig, Natasha N.
Wojnaroski, Mary
Suskauer, Stacy J.
Slomine, Beth S.
Kaiser, Ariela
Paltell, Katherine
Evans, Lindsey
Tucker, Karis
Chapman, Chere A. T.
Conecker, Gabrielle
Hecker, JayEtta
Myers, Leah Schust
Downs, Jenny
Berg, Anne T.
EPILEPSY & BEHAVIOR, 2024, 160
[46] Association of pathogenic variants in SCN2A and COL4A2 mimics the neurometabolic phenotype - a case of SCN2A-related encephalopathy and COL4A2-related brain small vessel disease
Polatynska, Katarzyna
Kepczynski, Lukasz
Rydzanicz, Malgorzata
Ploski, Rafal
Salacinska, Kinga
Przyslo, Lukasz
Grzelak, Piotr
Gach, Agnieszka
EUROPEAN JOURNAL OF HUMAN GENETICS, 2023, 31 : 487 - 487
[47] Clinical and therapeutic implications of BRAF mutation heterogeneity in metastatic melanoma
Ardakani, Nima Mesbah
Leslie, Connull
Grieu-Iacopetta, Fabienne
Lam, Wei-Sen
Budgeon, Charley
Millward, Michael
Amanuel, Benhur
PIGMENT CELL & MELANOMA RESEARCH, 2017, 30 (02) : 233 - 242
[48] Phenotypic and genetic spectrum in Chinese children with SCN8A-related disorders
Hu, Chunhui
Luo, Tian
Wang, Yi
SEIZURE-EUROPEAN JOURNAL OF EPILEPSY, 2022, 95 : 38 - 49
[49] Clinical and therapeutic implications of BRAF fusions in histiocytic disorders
Zanwar, Saurabh
Abeykoon, Jithma P.
Dasari, Surendra
Ravindran, Aishwarya
Young, Jason R.
Acosta-Medina, Aldo A.
Rech, Karen L.
Schwartz, Jonathan
Mangold, Aaron
Rosenthal, Allison
Bennani, N. Nora
Shah, Mithun V.
Morlote, Diana
Goyal, Gaurav
Go, Ronald S.
BLOOD CANCER JOURNAL, 2022, 12 (06)
[50] Motivation to change in eating disorders:: Clinical and therapeutic implications
Casasnovas, C.
Fernandez-Aranda, F.
Granero, R.
Krug, I.
Jimenez-Murcia, S.
Bulik, C. M.
Vallejo-Ruiloba, J.
EUROPEAN EATING DISORDERS REVIEW, 2007, 15 (06) : 449 - 456

← 1 2 3 4 5 →