Publication
Title
De novo SCN1A mutations in migrating partial seizures of infancy
Author
Abstract
Objective: To determine the genetic etiology of the severe early infantile onset syndrome of malignant migrating partial seizures of infancy (MPSI). Methods: Fifteen unrelated children with MPSI were screened for mutations in genes associated with infantile epileptic encephalopathies: SCN1A, CDKL5, STXBP1, PCDH19, and POLG. Microarray studies were performed to identify copy number variations. Results: One patient had a de novo SCN1A missense mutation p.R862G that affects the voltage sensor segment of SCN1A. A second patient had a de novo 11.06 Mb deletion of chromosome 2q24.2q31.1 encompassing more than 40 genes that included SCN1A. Screening of CDKL5 (13/15 patients), STXBP1 (13/15), PCDH19 (9/11 females), and the 3 common European mutations of POLG (11/15) was negative. Pathogenic copy number variations were not detected in 11/12 cases. Conclusion: Epilepsies associated with SCN1A mutations range in severity from febrile seizures to severe epileptic encephalopathies including Dravet syndrome and severe infantile multifocal epilepsy. MPSI is now the most severe SCN1A phenotype described to date. While not a common cause of MPSI, SCN1A screening should now be considered in patients with this devastating epileptic encephalopathy. GLOSSARY: CNV: copy number variation EE: epileptic encephalopathy MPSI: malignant migrating partial seizures of infancy SIMFE: severe infantile multifocal epilepsy.
Language
English
Source (journal)
Neurology / American Academy of Neurology. - Minneapolis, Minn
Publication
Minneapolis, Minn : 2011
ISSN
0028-3878
DOI
10.1212/WNL.0B013E318227046D
Volume/pages
77 :4 (2011) , p. 380-383
ISI
000293123300017
Full text (Publisher's DOI)
UAntwerpen
Faculty/Department
Research group
Publication type
Subject
Affiliation
Publications with a UAntwerp address
External links
Web of Science
Record
Identifier
Creation 18.10.2011
Last edited 15.11.2022
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