Familial Focal Epilepsy with Variable Foci: A Novel DEPDC5 Gene Mutation-Reference-Cited by-同舟云学术

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Familial Focal Epilepsy with Variable Foci: A Novel DEPDC5 Gene Mutation

Published:2024-04 Issue:2 Volume:41 Page:118-120
ISSN:2636-865X
Container-title:Neurological Sciences and Neurophysiology
language:en
Short-container-title:

Author:

Akdogan Özlem¹,Avci Sahin²,Bauer Peter³,Gürses Candan⁴

Affiliation:

1. Department of Neurology, Istanbul Training and Research Hospital, University of Health Sciences, Istanbul, Turkey

2. Department of Medical Genetics, Faculty of Medicine, Koç University, Istanbul, Turkey

3. Centogene GmbH, University of Rostock, Rostock, Germany

4. Department of Neurology, Faculty of Medicine, Koç University, Istanbul, Turkey

Publisher

Medknow

Reference5 articles.

1. Acute knockdown of Depdc5 leads to synaptic defects in mTOR-related epileptogenesis;De Fusco;Neurobiol Dis,2020

2. Mutations in DEPDC5 cause familial focal epilepsy with variable foci;Dibbens;Nat Genet,2013

3. Diagnostic yield and treatment impact of targeted exome sequencing in early-onset epilepsy;Demos;Front Neurol,2019

4. Diagnostic yield of genetic tests in epilepsy: A meta-analysis and cost-effectiveness study;Fernández;Neurology,2019

5. Lessons learnt from multifaceted diagnostic approaches to the first 150 families in Victoria's Undiagnosed Diseases Program;Cloney;J Med Genet,2022

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