Heterozygous and homozygous variants in STX1A cause a neurodevelopmental disorder with or without epilepsy

被引：0

作者：

Luppe, Johannes ^{[1
]}

Sticht, Heinrich ^{[2
]}

Lecoquierre, Francois ^{[3
]}

Goldenberg, Alice ^{[3
]}

Gorman, Kathleen ^{[4
]}

Agolini, Emanuele ^{[5
]}

Briuglia, Silvana ^{[6
]}

Kuismin, Outi ^{[7
]}

Marcelis, Carlo ^{[8
]}

Vitobello, Antonio ^{[9
]}

Denomme-Pichon, Anne-Sophie ^{[9
]}

Julia, Sophie ^{[10
]}

Lemke, Johannes ^{[1
]}

Abou Jamra, Rami ^{[1
]}

Platzer, Konrad ^{[1
]}

机构：

[1] Univ Leipzig, Med Ctr, Inst Human Genet, Leipzig, Germany

[2] Friedrich Alexander Univ Erlangen Nuernberg, Inst Biochem, Erlangen, Germany

[3] Hosp Ctr Univ Rouen, Lab Mol Genet, Rouen, France

[4] Temple St Childrens Univ Hosp, Dublin, Ireland

[5] Bambino Gesu Pediat Hosp, Rome, Italy

[6] Clin Genet, Messina, Italy

[7] Inst Mol Med Finland, Helsinki, Finland

[8] Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen, Netherlands

[9] Univ Burgundy Franche Comte, Dijon, France

[10] CHU Toulouse, Federat Inst Biol, Toulouse, France

来源：

EUROPEAN JOURNAL OF HUMAN GENETICS | 2023年 / 31卷

关键词：

D O I：

暂无

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

P09.029.A

引用

页码：455 / 456

页数：2

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