The role of recessive inheritance in early-onset epileptic encephalopathies: a combined whole-exome...
The role of recessive inheritance in early-onset epileptic encephalopathies: a combined whole-exome sequencing and copy number study
About this item
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Author / Creator
Papuc, Sorina M. , Abela, Lucia , Steindl, Katharina , Begemann, Anaïs , Simmons, Thomas L. , Schmitt, Bernhard , Zweier, Markus , Oneda, Beatrice , Socher, Eileen , Crowther, Lisa M. , Wohlrab, Gabriele , Gogoll, Laura , Poms, Martin , Seiler, Michelle , Papik, Michael , Baldinger, Rosa , Baumer, Alessandra , Asadollahi, Reza , Kroell-Seger, Judith , Schmid, Regula , Iff, Tobias , Schmitt-Mechelke, Thomas , Otten, Karoline , Hackenberg, Annette , Addor, Marie-Claude , Klein, Andrea , Azzarello-Burri, Silvia , Sticht, Heinrich , Joset, Pascal , Plecko, Barbara and Rauch, Anita
Publisher
England: Nature Publishing Group
Journal title
Language
English
Formats
Publication information
Publisher
England: Nature Publishing Group
Subjects
More information
Scope and Contents
Contents
Early-onset epileptic encephalopathy (EE) and combined developmental and epileptic encephalopathies (DEE) are clinically and genetically heterogeneous severely devastating conditions. Recent studies emphasized de novo variants as major underlying cause suggesting a generally low-recurrence risk. In order to better understand the full genetic landsc...
Alternative Titles
Full title
The role of recessive inheritance in early-onset epileptic encephalopathies: a combined whole-exome sequencing and copy number study
Authors, Artists and Contributors
Author / Creator
Abela, Lucia
Steindl, Katharina
Begemann, Anaïs
Simmons, Thomas L.
Schmitt, Bernhard
Zweier, Markus
Oneda, Beatrice
Socher, Eileen
Crowther, Lisa M.
Wohlrab, Gabriele
Gogoll, Laura
Poms, Martin
Seiler, Michelle
Papik, Michael
Baldinger, Rosa
Baumer, Alessandra
Asadollahi, Reza
Kroell-Seger, Judith
Schmid, Regula
Iff, Tobias
Schmitt-Mechelke, Thomas
Otten, Karoline
Hackenberg, Annette
Addor, Marie-Claude
Klein, Andrea
Azzarello-Burri, Silvia
Sticht, Heinrich
Joset, Pascal
Plecko, Barbara
Rauch, Anita
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_6460568
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_6460568
Other Identifiers
ISSN
1018-4813
E-ISSN
1476-5438
DOI
10.1038/s41431-018-0299-8
