Severe early-onset developmental and epileptic encephalopathy (DEE) associated with novel compound heterozygous pathogenic variants in SLC25A22: Case report and literature review. (August 2019)

Record Type:
Journal Article
Title:
Severe early-onset developmental and epileptic encephalopathy (DEE) associated with novel compound heterozygous pathogenic variants in SLC25A22: Case report and literature review. (August 2019)
Main Title:
Severe early-onset developmental and epileptic encephalopathy (DEE) associated with novel compound heterozygous pathogenic variants in SLC25A22: Case report and literature review
Authors:
Giacomini, Thea
Pisciotta, Livia
Prato, Giulia
Meola, Irene
Zara, Federico
Fiorillo, Chiara
Baratto, Serena
Severino, Mariasavina
De Grandis, Elisa
Mancardi, Maria Margherita
Abstract:
Is Part Of:
Seizure. Volume 70(2019)
Journal:
Seizure
Issue:
Volume 70(2019)
Issue Display:
Volume 70, Issue 2019 (2019)
Year:
2019
Volume:
70
Issue:
2019
Issue Sort Value:
2019-0070-2019-0000
Page Start:
56
Page End:
58
Publication Date:
2019-08
Subjects:
Early-onset developmental and epileptic encephalopathy -- SLC25A22 pathogenic variant -- Mitochondrial glutamate carrier -- Tonic seizures -- Microcephaly
Epilepsy -- Periodicals
Epilepsy -- Periodicals
Seizures -- Periodicals
Épilepsie -- Périodiques
Electronic journals
Electronic journals
616.853
Journal URLs:
http://www.seizure-journal.com/ ↗
http://www.clinicalkey.com.au/dura/browse/journalIssue/13550306 ↗
http://www.clinicalkey.com/dura/browse/journalIssue/10591311 ↗
http://www.sciencedirect.com/science/journal/10591311 ↗
http://www.elsevier.com/journals ↗
http://www.harcourt-international.com/journals/seiz/ ↗
DOI:
10.1016/j.seizure.2019.06.029 ↗
Languages:
English
ISSNs:
1059-1311
Deposit Type:
Legaldeposit
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗
Physical Locations:
British Library DSC - 8229.100000
British Library DSC - BLDSS-3PM
British Library STI - ELD Digital store
Ingest File:
11602.xml