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Type: Journal article
Title: De novo SCN1A mutations in migrating partial seizures of infancy
Author: Carranza Rojo, D.
Hamiwka, L.
McMahon, J.
Dibbens, L.
Arsov, T.
Suls, A.
Stodberg, T.
Kelley, K.
Wirrell, E.
Appleton, B.
Mackay, M.
Freeman, J.
Yendle, S.
Berkovic, S.
Bienvenu, T.
De Jonghe, P.
Thorburn, D.
Mulley, J.
Mefford, H.
Scheffer, I.
Citation: Neurology, 2011; 77(4):380-383
Publisher: Lippincott Williams & Wilkins
Issue Date: 2011
ISSN: 0028-3878
Statement of
D. Carranza Rojo... L.M. Dibbens... J.C. Mulley... et al.
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.
Keywords: Humans
Epilepsies, Partial
Genetic Predisposition to Disease
DNA-Directed DNA Polymerase
Protein-Serine-Threonine Kinases
Sodium Channels
Nerve Tissue Proteins
Child, Preschool
Munc18 Proteins
Genetic Testing
DNA Copy Number Variations
NAV1.1 Voltage-Gated Sodium Channel
DNA Polymerase gamma
Rights: © 2011 AAN Enterprises, Inc.
DOI: 10.1212/WNL.0b013e318227046d
Appears in Collections:Aurora harvest
Paediatrics publications

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