Globus Pallidus Lesion With Iron Deposition and Dopaminergic Denervation in a Patient With a Pathogenic <i>SLC6A1</i> Variant-Reference-Cited by-同舟云学术

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Globus Pallidus Lesion With Iron Deposition and Dopaminergic Denervation in a Patient With a Pathogenic SLC6A1 Variant

Published:2024-04 Issue:2 Volume:10 Page:
ISSN:2376-7839
Container-title:Neurology Genetics
language:en
Short-container-title:Neurol Genet

Author:

Leclert Victoire¹,Laurencin Chloe¹^ORCID,Ameli Roxana¹,Hermier Marc¹^ORCID,Flaus Anthime¹^ORCID,Prange Stephane¹^ORCID,Lesca Gaetan¹^ORCID,Thobois Stephane¹^ORCID

Affiliation:

1. From the Department of Neurology C (V.L., C.L., S.P., S.T.), Expert Parkinson Center NS-PARK/FCRIN, Hospices Civils de Lyon, Pierre Wertheimer Neurological Hospital, Bron; Lyon Neuroscience Research Center (C.L., A.F.), UMR5292, INSERM U1028/CNRS; Department of Neuroradiology (R.A., M.H.); Nuclear Medicine Department (A.F.), Hospices Civils de Lyon, Pierre Wertheimer Neurological Hospital; Marc Jeannerod Cognitive Neuroscience Institute (S.P., S.T.), CNRS, UMR 5229, Bron; Faculté de Médecine et...

Publisher

Ovid Technologies (Wolters Kluwer Health)

Link

https://www.neurology.org/doi/pdfdirect/10.1212/NXG.0000000000200136

Reference15 articles.

1. The Subcellular Localization of GABA Transporters and Its Implication for Seizure Management

2. GABA and Glutamate Transporters in Brain

3. Mutations in the GABA Transporter SLC6A1 Cause Epilepsy with Myoclonic-Atonic Seizures

4. Defining the phenotypic spectrum ofSLC6A1mutations

5. Current knowledge of SLC6A1-related neurodevelopmental disorders

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