De Novo Missense Variants in <scp> <i>SLC32A1</i> </scp> Cause a Developmental and Epileptic Encephalopathy Due to Impaired <scp>GABAergic</scp> Neurotransmission-Reference-Cited by-同舟云学术

De Novo Missense Variants in SLC32A1 Cause a Developmental and Epileptic Encephalopathy Due to Impaired GABAergic Neurotransmission

Published:2022-09-08 Issue:6 Volume:92 Page:958-973
ISSN:0364-5134
Container-title:Annals of Neurology
language:en
Short-container-title:Annals of Neurology

Author:

Platzer Konrad¹^ORCID,Sticht Heinrich²^ORCID,Bupp Caleb³^ORCID,Ganapathi Mythily⁴^ORCID,Pereira Elaine M.⁵^ORCID,Le Guyader Gwenaël⁶^ORCID,Bilan Frederic⁶⁷^ORCID,Henderson Lindsay B.⁸,Lemke Johannes R.¹⁹^ORCID,Taschenberger Holger¹⁰^ORCID,Brose Nils¹⁰^ORCID,Abou Jamra Rami¹^ORCID,Wojcik Sonja M.¹⁰

Affiliation:

1. Institute of Human Genetics University of Leipzig Medical Center Leipzig Germany

2. Institute of Biochemistry Friedrich‐Alexander University Erlangen‐Nürnberg Erlangen Germany

3. Spectrum Health Medical Genetics Grand Rapids Michigan

4. Department of Pathology and Cell Biology Columbia University Medical Center New York New York

5. Department of Pediatrics Columbia University Irving Medical Center New York New York

6. Department of Genetics Poitiers University Hospital Center Poitiers Cedex France

7. Laboratory of Experimental and Clinical Neurosciences (LNEC) INSERM U1084 University of Poitiers Poitiers France

8. GeneDx Gaithersburg Maryland

9. Center for Rare Diseases University of Leipzig Medical Center Leipzig Germany

10. Department of Molecular Neurobiology Max Planck Institute for Multidisciplinary Sciences Göttingen Germany

Publisher

Wiley

Subject

Neurology (clinical),Neurology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ana.26485

Reference51 articles.

1. Evolutionary origin of amino acid transporter families SLC32, SLC36 and SLC38 and physiological, pathological and therapeutic aspects

2. A Shared Vesicular Carrier Allows Synaptic Corelease of GABA and Glycine

3. Impaired Glycinergic Synaptic Transmission and Enhanced Inflammatory Pain in Mice with Reduced Expression of Vesicular GABA Transporter (VGAT)

4. Spectrum of GABAA receptor variants in epilepsy

5. Association of SLC32A1 Missense Variants With Genetic Epilepsy With Febrile Seizures Plus

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