<scp><i>CLCN2</i></scp>‐Related Leukoencephalopathy in Two Unrelated Patients Due to Novel Variants-Reference-Cited by-同舟云学术

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CLCN2‐Related Leukoencephalopathy in Two Unrelated Patients Due to Novel Variants

Published:2023-05-31 Issue:7 Volume:10 Page:1155-1158
ISSN:2330-1619
Container-title:Movement Disorders Clinical Practice
language:en
Short-container-title:Movement Disord Clin Pract

Author:

Holla Vikram V.¹^ORCID,Phulpagar Prashant²³,Saini Jitender⁴,Kamble Nitish¹,Pal Pramod Kumar¹^ORCID,Yadav Ravi¹^ORCID,Muthusamy Babylakshmi²³,Netravathi Manjunath¹

Affiliation:

1. Department of Neurology National Institute of Mental Health and Neurosciences Bengaluru India

2. Institute of Bioinformatics, International Technology Park Bengaluru India

3. Manipal Academy of Higher Education Manipal India

4. Department of Neuroimaging and Interventional Radiology National Institute of Mental Health and Neurosciences Bengaluru India

Funder

Science and Engineering Research Board

Publisher

Wiley

Subject

Neurology (clinical),Neurology

Reference7 articles.

1. Brain white matter oedema due to ClC-2 chloride channel deficiency: an observational analytical study

2. Leukoencephalopathy upon Disruption of the Chloride Channel ClC-2

3. Discovery of CLC transport proteins: cloning, structure, function and pathophysiology

4. Subclinical leukodystrophy and infertility in a man with a novel homozygous CLCN2 mutation

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