Recurrent SLC1A2 variants cause epilepsy via a dominant negative mechanism-Reference-Cited by-同舟云学术

Recurrent SLC1A2 variants cause epilepsy via a dominant negative mechanism

Published:2019-04-26 Issue:6 Volume:85 Page:921-926
ISSN:0364-5134
Container-title:Annals of Neurology
language:en
Short-container-title:Ann Neurol

Author:

Stergachis Andrew B.¹,Pujol‐Giménez Jonai²³,Gyimesi Gergely²³,Fuster Daniel²³,Albano Giusppe²³,Troxler Marina²³,Picker Jonathan⁴,Rosenberg Paul A.⁵,Bergin Ann⁵,Peters Jurriaan⁵^ORCID,El Achkar Christelle Moufawad⁵,Harini Chellamani⁵,Manzi Shannon⁶,Rotenberg Alexander⁵,Hediger Matthias A.²³,Rodan Lance H.⁴⁵

Affiliation:

1. Division of Genetics, Department of MedicineBrigham and Women's Hospital Boston MA

2. Department of Nephrology and HypertensionUniversity Hospital Bern Inselspital, Bern Switzerland

3. Institute of Biochemistry and Molecular MedicineUniversity of Bern Bern Switzerland

4. Division of Genetics and GenomicsBoston Children's Hospital, Harvard Medical School Boston MA

5. Department of NeurologyBoston Children's Hospital, Harvard Medical School Boston MA

6. Department of PharmacyBoston Children's Hospital, Harvard Medical School Boston MA

Funder

National Institutes of Health

Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung

Publisher

Wiley

Subject

Neurology (clinical),Neurology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ana.25477

Reference15 articles.

1. Glutamate neurotoxicity and diseases of the nervous system

2. Excitatory Amino Acids as a Final Common Pathway for Neurologic Disorders

3. Epilepsy and Exacerbation of Brain Injury in Mice Lacking the Glutamate Transporter GLT-1

4. Conditional Deletion of the Glutamate Transporter GLT-1 Reveals That Astrocytic GLT-1 Protects against Fatal Epilepsy While Neuronal GLT-1 Contributes Significantly to Glutamate Uptake into Synaptosomes

5. Characterization of 11p14-p12 deletion in WAGR syndrome by array CGH for identifying genes contributing to mental retardation and autism

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