Report on three additional patients and genotype–phenotype correlation in SLC25A22-related disorders...
Report on three additional patients and genotype–phenotype correlation in SLC25A22-related disorders group
About this item
Full title
Author / Creator
Lemattre, Camille , Imbert-Bouteille, Marion , Gatinois, Vincent , Benit, Paule , Sanchez, Elodie , Guignard, Thomas , Tran Mau-Them, Frédéric , Haquet, Emmanuelle , Rivier, François , Carme, Emilie , Roubertie, Agathe , Boland, Anne , Lechner, Doris , Meyer, Vincent , Thevenon, Julien , Duffourd, Yannis , Rivière, Jean-Baptiste , Deleuze, Jean-François , Wells, Constance , Molinari, Florence , Rustin, Pierre , Blanchet, Patricia and Geneviève, David
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 infantile epileptic encephalopathy (EIEE) is a heterogeneous group of severe forms of age-related developmental and epileptic encephalopathies with onset during the first weeks or months of life. The interictal electroencephalogram (EEG) shows a "suppression burst" (SB) pattern. The prognosis is usually poor and most children die within the f...
Alternative Titles
Full title
Report on three additional patients and genotype–phenotype correlation in SLC25A22-related disorders group
Authors, Artists and Contributors
Author / Creator
Imbert-Bouteille, Marion
Gatinois, Vincent
Benit, Paule
Sanchez, Elodie
Guignard, Thomas
Tran Mau-Them, Frédéric
Haquet, Emmanuelle
Rivier, François
Carme, Emilie
Roubertie, Agathe
Boland, Anne
Lechner, Doris
Meyer, Vincent
Thevenon, Julien
Duffourd, Yannis
Rivière, Jean-Baptiste
Deleuze, Jean-François
Wells, Constance
Molinari, Florence
Rustin, Pierre
Blanchet, Patricia
Geneviève, David
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_6871179
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_6871179
Other Identifiers
ISSN
1018-4813
E-ISSN
1476-5438
DOI
10.1038/s41431-019-0433-2
