De novo missense variants in SLC32A1 cause a neurodevelopmental disorder with epilepsy due to impaired GABAergic neurotransmission

被引：0

作者：

Platzer, Konrad ^{[1
]}

Sticht, Heinrich ^{[2
]}

Bupp, Caleb ^{[3
]}

Ganapathi, Mathily ^{[4
]}

Pereira, Elaine ^{[5
]}

Le Guyader, Gwenael ^{[6
]}

Bilan, Frederic ^{[6
]}

Henderson, Lindsay ^{[7
]}

Taschenberger, Holger ^{[8
]}

Brose, Nils ^{[8
]}

Radtke, Maximilian ^{[1
]}

Abou Jamra, Rami ^{[1
]}

Wojcik, Sonja ^{[8
]}

机构：

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

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

[3] Spectrum Hlth Med Genet, Grand Rapids, MI USA

[4] Columbia Univ, Dept Pathol & Cell Biol, Med Ctr, New York, NY USA

[5] Columbia Univ, Dept Pediat, Irving Med Ctr, New York, NY USA

[6] Poitiers Univ Hosp Ctr, Dept Genet, Poitiers, France

[7] GeneDx, Gaithersburg, MD USA

[8] Max Planck Inst Expt Med, Dept Mol Neurobiol, Gottingen, Germany

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：

P09.042.B

引用

页码：462 / 462

页数：1

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