Journal
NEUROLOGY
Volume 77, Issue 4, Pages 380-383Publisher
LIPPINCOTT WILLIAMS & WILKINS
DOI: 10.1212/WNL.0b013e318227046d
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Funding
- National Health and Medical Research Council Australia
- Thyne Reid Charitable Trusts
- MS McLeod Foundation
- Flemish government
- American Epilepsy Society
- Instituto de Salud Carlos III, Fondo de Investigaciones Sanitarias, Spain
- Epilepsy Foundation
- National Health and Medical Research Council of Australia
- MS McLeod Trustees
- Mayo Foundation
- UCB
- Janssen-Cilag
- sanofi-aventis
- The University of Melbourne
- Biocodex
- National Fund for Scientific Research of Flanders
- The University of Antwerp
- The Belgian Science and Policy Office
- Muscular Dystrophy Association (USA)
- The Juvenile Diabetes Research Foundation
- SMILE Foundation
- Jenour Foundation
- Australian Mitochondrial Disease Foundation
- Foundation for Children
- NIH/NINDS
- Burroughs Wellcome Fund
- Athena Diagnostics
- Janssen-Cilag EMEA
- Health Research Council of New Zealand
- Jack Brockhoff Foundation
- Shepherd Foundation
- Perpetual Charitable Trustees
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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 913/15 patients), STXBP1 913/15), PCDH19 99/11 females), and the 3 common European mutations of POLG 911/15) 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. Neurology (R) 2011; 77: 380-383
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