The mild phenotype of the STXBP1 clinical spectrum

被引：0
|
作者：
Furia, F. [1 ,2 ]
Sullivan, K. R. [3 ,4 ,5 ,6 ]
Barbagallo, P. [7 ]
Boland, M. J. [6 ]
Ben Zeev, B. [8 ]
Cossu, A. [9 ,10 ,11 ]
Cunningham, K. [3 ,4 ]
Darling, A. [12 ]
Darra, F. [9 ,13 ,14 ]
Driedger, J-H [15 ]
Garcia-Cazorla, A. [12 ]
Misra-Isrie, M. [16 ]
Papastamatis, K. [17 ]
Pierce, S. [3 ,4 ]
Ruggiero, S. M. [3 ,4 ]
Syrbe, S. [15 ]
Thalwitzer, K. M. [15 ]
Ostergaard, M. [17 ]
Helbig, I. [3 ,4 ]
Sorensen, J. B. [17 ]
Moller, R. S. [1 ,2 ]
Gardella, E. [1 ,2 ,18 ]
机构：
[1] Danish Epilepsy Ctr, Dept Epilepsy Genet & Personalized Treatment, Dianalund, Denmark
[2] Univ Southern Denmark, Inst Reg Hlth Serv, Odense, Denmark
[3] Childrens Hosp Philadelphia, Div Neurol, Philadelphia, PA 19104 USA
[4] Childrens Hosp Philadelphia, Epilepsy NeuroGenet Initiat, Philadelphia, PA 19104 USA
[5] Childrens Hosp Philadelphia, Dept Biomed & Hlth Informat, Philadelphia, PA 19104 USA
[6] Univ Penn, Childrens Hosp Philadelphia, Perelman Sch Med, Ctr Epilepsy & NeuroDev Disorders, Philadelphia, PA 19104 USA
[7] Univ Copenhagen, Dept Neurosci, Copenaghen, Denmark
[8] Edmond & Lily Safra Childrens Hosp, Pediat Neurol Unit, Sheba Med Ctr, Ramat Gan, Israel
[9] Univ Verona, Dept Surg Dent Paediat & Gynecol, Child Neuropsychiat Unit, European Reference Network EpiCARE, Verona, Italy
[10] Univ Verona, Dept Innovat Med & Engn, Veronaita, Italy
[11] AOUI Verona, Dept Children & Maternal Hlth, Res Ctr Pediat Epilepsies CREP, Verona, Italy
[12] Inst Recerca St Joan Deu, Dept Neurol & MetabERN, Synapt Metab & Personalized Therapies Lab, Esplugas de Llobregat, Barcelona, Spain
[13] Univ Verona, Dept Innovat Med & Engn, Verona, Italy
[14] AOUI Verona, Dept Children & Maternal Hlth, Res Ctr Pediat Epilepsies CREP, Veronaitali, Italy
[15] Univ Hosp Heidelberg, Div Pediat Epileptol, Ctr Pediat & Adolescent Med, Heidelberg, Germany
[16] Amsterdam Univ Med Ctr, Dept Human Genet, Clin Genet Sect, Amsterdam, Netherlands
[17] Univ Copenaghen, Dept Neurosci, Copenaghen, Denmark
[18] Danish Epilepsy Ctr, Dept Neurophisiol, Dianalund, Denmark
来源：
EPILEPSIA | 2024年 / 65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：
1169
引用
收藏
页码：318 / 319
页数：2
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