Mosaic <i>CLTC</i> pathogenic variant causing focal epilepsy with normal intelligence-Reference-Cited by-同舟云学术

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Mosaic CLTC pathogenic variant causing focal epilepsy with normal intelligence

Published:2024-09-05 Issue: Volume: Page:
ISSN:1294-9361
Container-title:Epileptic Disorders
language:en
Short-container-title:Epileptic Disorders

Author:

Sveistrup Michelle A.¹,Myers Kenneth A.²³⁴^ORCID

Affiliation:

1. Faculty of Medicine McGill University Montreal Quebec Canada

2. Child Health & Human Development Program Research Institute of the McGill University Health Centre Montreal Quebec Canada

3. Division of Neurology, Department of Pediatrics Montreal Children's Hospital, McGill University Health Centre Montreal Quebec Canada

4. Department of Neurology and Neurosurgery Montreal Children's Hospital, McGill University Health Centre Montreal Quebec Canada

Funder

Fonds de Recherche du Québec - Santé

Publisher

Wiley

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/epd2.20270

Reference9 articles.

1. Human clathrin heavy chain (CLTC): Partial molecular cloning, expression, and mapping of the gene to human chromosome 17q11-qter

2. Mechanisms of clathrin-mediated endocytosis

3. Clathrin is required for the function of the mitotic spindle

4. CLTC as a clinically novel gene associated with multiple malformations and developmental delay

5. High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies

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