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

页码：318 / 319

页数：2

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