Chromosomal microarray and exome sequencing in unexplained early infantile epileptic encephalopathies in a highly consanguineous population-Reference-Cited by-同舟云学术

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Chromosomal microarray and exome sequencing in unexplained early infantile epileptic encephalopathies in a highly consanguineous population

Published:2021-08-23 Issue: Volume: Page:1-18
ISSN:0020-7454
Container-title:International Journal of Neuroscience
language:en
Short-container-title:International Journal of Neuroscience

Author:

Turkdogan Dilsad¹^ORCID,Turkyilmaz Ayberk²,Sager Gunes¹,Ozturk Gulten¹,Unver Olcay¹,Say Merve³

Affiliation:

1. Medical Faculty, Department of Pediatric Neurology, Marmara University, Pendik, Istanbul, Turkey

2. Medical Faculty, Department of Medical Genetics, Marmara University, Pendik, Istanbul, Turkey

3. Bioinformatics, Private Practice, Kadıkoy, Istanbul, Turkey

Publisher

Informa UK Limited

Subject

General Medicine,General Neuroscience

Link

https://www.tandfonline.com/doi/pdf/10.1080/00207454.2021.1967349

Reference38 articles.

1. A population-based cost-effectiveness study of early genetic testing in severe epilepsies of infancy

2. The hidden genetics of epilepsy—a clinically important new paradigm

3. Diagnostic implications of genetic copy number variation in epilepsy plus

4. Chromosomal microarray in unexplained severe early onset epilepsy – A single centre cohort

5. Copy number variant analysis from exome data in 349 patients with epileptic encephalopathy

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