Yield of exome sequencing in patients with developmental and epileptic encephalopathies and inconclusive targeted gene panel-Reference-Cited by-同舟云学术

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Yield of exome sequencing in patients with developmental and epileptic encephalopathies and inconclusive targeted gene panel

Published:2024-01 Issue: Volume:48 Page:17-29
ISSN:1090-3798
Container-title:European Journal of Paediatric Neurology
language:en
Short-container-title:European Journal of Paediatric Neurology

Author:

Sedlackova Lucie^ORCID,Sterbova Katalin,Vlckova Marketa,Seeman Pavel,Zarubova Jana^ORCID,Marusic Petr^ORCID,Krsek Pavel,Krijtova Hana,Musilova Alena^ORCID,Lassuthova Petra^ORCID

Funder

European Commission

Ministerstvo Školství, Mládeže a Tělovýchovy

Ministerstvo Zdravotnictví Ceské Republiky

Publisher

Elsevier BV

Subject

Neurology (clinical),General Medicine,Pediatrics, Perinatology and Child Health

Reference45 articles.

1. Raring for change: confluence of scientific discovery and advocate alignment warrants vital new investments in the Epilepsies;Miller;Epilepsy Behav.,2020

2. Deciphering the concepts behind "Epileptic encephalopathy" and "Developmental and epileptic encephalopathy";Scheffer;Eur. J. Paediatr. Neurol.,2020

3. Epilepsy and developmental disorders: next generation sequencing in the clinic;Symonds;Eur. J. Paediatr. Neurol.,2020

4. The role of sodium channels in sudden unexpected death in pediatrics;Rochtus;Mol Genet Genomic Med,2020

5. Diagnostic exome sequencing in persons with severe intellectual disability;de Ligt;N. Engl. J. Med.,2012

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