Targeted re-sequencing for early diagnosis of genetic causes of childhood epilepsy: the Italian experience from the ‘beyond epilepsy’ project-Reference-Cited by-同舟云学术

Targeted re-sequencing for early diagnosis of genetic causes of childhood epilepsy: the Italian experience from the ‘beyond epilepsy’ project

Published:2020-07-06 Issue:1 Volume:46 Page:
ISSN:1824-7288
Container-title:Italian Journal of Pediatrics
language:en
Short-container-title:Ital J Pediatr

Author:

Amadori Elisabetta,Scala Marcello,Cereda Giulia Sofia,Vari Maria Stella,Marchese Francesca,Di Pisa Veronica,Mancardi Maria Margherita,Giacomini Thea,Siri Laura,Vercellino Fabiana,Serino Domenico,Orsini Alessandro,Bonuccelli Alice,Bagnasco Irene,Papa Amanda,Minetti Carlo,Cordelli Duccio Maria,Striano Pasquale^ORCID

Publisher

Springer Science and Business Media LLC

Subject

General Medicine

Link

http://link.springer.com/content/pdf/10.1186/s13052-020-00860-1.pdf

Reference37 articles.

1. Orsini A, Zara F, Striano P. Recent advances in epilepsy genetics. Neurosci Lett. 2018;667:4–9.

2. Hildebrand MS, Dahl HH, Damiano JA, Smith RJ, Scheffer IE, Berkovic SF. Recent advances in the molecular genetics of epilepsy. J Med Genet. 2013;50(5):271–9.

3. Striano P, Vari MS, Mazzocchetti C, Verrotti A, Zara F. Management of genetic epilepsies: from empirical treatment to precision medicine. Pharmacol Res. 2016;107:426–9.

4. Scala M, Bianchi A, Bisulli F, Coppola A, Elia M, Trivisano M, et al. Advances in genetic testing and optimization of clinical management in children and adults with epilepsy. Expert Rev Neurother. 2020;20(3):251–69.

5. Williams RE, Adams HR, Blohm M, Cohen-Pfeffer JL, de Los RE, Denecke J, et al. Management strategies for CLN2 disease. Pediatr Neurol. 2017;69:102–12.

Cited by 24 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Microdeletion 3q13.33-3q21.2: A Rare Cause of Neurodevelopmental Disorder;Journal of Pediatric Genetics;2024-07-04

2. Novel KCNQ2 missense variant expands the genotype spectrum of DEE7;Neurological Sciences;2024-06-17

3. A needle in a haystack? The impact of a targeted epilepsy gene panel in the identification of a treatable but rapidly progressive metabolic epilepsy: CLN2 disease;Arquivos de Neuro-Psiquiatria;2024-05

4. Novel copy number variations and phenotypes of infantile epileptic spasms syndrome;Clinical Genetics;2024-03-28

5. Insights into neurometabolic diseases;AIMS Molecular Science;2024