Genetic etiologies with a large NGS panel in a monocentric cohort of 1000 patients with pediatric on...
Genetic etiologies with a large NGS panel in a monocentric cohort of 1000 patients with pediatric onset epilepsies
About this item
Full title
Author / Creator
Barcia, Giulia , Chemaly, Nicole , Gobin‐Limballe, Stéphanie , Losito, Emma , Aubart, Mélodie , Sarda, Eugénie , Assouline, Zahra , Plante‐Bordeneuve, Pauline , Hully, Marie , Barrois, Remi , Barnerias, Christine , Sareidaki, Doxa , Zeitoun, Delphine Coste , Eisermann, Monika , Fourrage, Cécile , Hanein, Sylvain , Rio, Marlène , Boddaert, Nathalie , Desguerre, Isabelle , Kaminska, Anna , Steffann, Julie and Nabbout, Rima
Publisher
United States
Journal title
Language
English
Formats
Publication information
Publisher
United States
More information
Scope and Contents
Contents
Genetic testing is now included in the diagnostic assessment of childhood onset epilepsies. We evaluated the yield of a targeted next generation sequencing (TNGS) panel dedicated to pediatric epilepsies.
We tested by TNGS panel 1000 consecutive patients presenting with childhood onset epilepsies and including mainly patients with early onset epi...
Alternative Titles
Full title
Genetic etiologies with a large NGS panel in a monocentric cohort of 1000 patients with pediatric onset epilepsies
Authors, Artists and Contributors
Author / Creator
Chemaly, Nicole
Gobin‐Limballe, Stéphanie
Losito, Emma
Aubart, Mélodie
Sarda, Eugénie
Assouline, Zahra
Plante‐Bordeneuve, Pauline
Hully, Marie
Barrois, Remi
Barnerias, Christine
Sareidaki, Doxa
Zeitoun, Delphine Coste
Eisermann, Monika
Fourrage, Cécile
Hanein, Sylvain
Rio, Marlène
Boddaert, Nathalie
Desguerre, Isabelle
Kaminska, Anna
Steffann, Julie
Nabbout, Rima
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_proquest_miscellaneous_3202590006
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_3202590006
Other Identifiers
ISSN
2470-9239
E-ISSN
2470-9239
DOI
10.1002/epi4.70057
