Whole‐exome sequencing in adult patients with developmental and epileptic encephalopathy: It is never too late-Reference-Cited by-同舟云学术

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Whole‐exome sequencing in adult patients with developmental and epileptic encephalopathy: It is never too late

Published:2020-09 Issue:5 Volume:98 Page:477-485
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Minardi Raffaella¹^ORCID,Licchetta Laura¹²,Baroni Maria Chiara³,Pippucci Tommaso⁴,Stipa Carlotta¹,Mostacci Barbara¹,Severi Giulia⁴,Toni Francesco¹,Bergonzini Luca³,Carelli Valerio¹²,Seri Marco⁴,Tinuper Paolo¹²,Bisulli Francesca¹²^ORCID

Affiliation:

1. IRCCS Istituto delle Scienze Neurologiche di Bologna (Reference Center for Rare and Complex Epilepsies‐EpiCARE) Bologna Italy

2. Department of Biomedical and Neuromotor Sciences University of Bologna Bologna Italy

3. Department of Biomedical and Surgical Sciences (DIMEC) University of Bologna Bologna Italy

4. Azienda Ospedaliero‐Universitaria di Bologna Policlinico Sant'Orsola‐Malpighi UO Genetica Medica Bologna Italy

Funder

Broad Institute

National Heart, Lung, and Blood Institute

National Human Genome Research Institute

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.13823

Reference20 articles.

1. ILAE classification of the epilepsies: Position paper of the ILAE Commission for Classification and Terminology

2. Epilepsy genetics: Current knowledge, applications, and future directions

3. Genetic diagnoses in epilepsy: The impact of dynamic exome analysis in a pediatric cohort

4. Unexplained early onset epileptic encephalopathy: Exome screening and phenotype expansion

5. Exome sequencing reveals new causal mutations in children with epileptic encephalopathies

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3. The Utility of Genetic Testing in Infantile Epileptic Spasms Syndrome: A Step-Based Approach in the Next-Generation Sequencing Era;Pediatric Neurology;2024-08

4. Soft cerebellar signs unveil RARS2‐related epilepsy;Epileptic Disorders;2024-05-11

5. Genetic Testing in Epilepsy: Improving Outcomes and Informing Gaps in Research;Epilepsy Currents;2024-03-25

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