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SCN2A mutation in an infant with Ohtahara syndrome and neuroimaging findings: expanding the phenotype of neuronal migration disorders
File(s)
Author(s)
Vlachou, Victoria
Larsen, Line
Pavlidou, Efterpi
Ismayilova, Naila
Mazarakis, ND
Type
Journal Article
Abstract
Neuronal migration disorders (NMDs) are a heterogeneous group of conditions caused by the abnormal migration of neuroblasts in the developing brain and nervous system, resulting in severe developmental impairment, intractable epilepsy and intellectual disability (Spalice et al. 2009). To date, many genes have been identified as the leading cause of migration defects, i.e. agyria/pachygyria, polymicrogyria, heterotopias, agenesis of the corpus callosum and agenesis of the cranial nerves (Spalice et al. 2009). Here, we present a patient with early infantile epileptic encephalopathy (Ohtahara syndrome) with seizure onset on the first day of life, severe developmental delay and an abnormal brain MRI with excessive folding of small, fused gyri and bilateral perisylvian polymicrogyria, suggestive of neuronal migration disorder. To clarify the unknown aetiology, we conducted whole-exome sequencing, which detected a de novo missense variant (c.5308A>T; p.(Met1770Leu)) in the SCN2A gene. This is a report of SCN2A gene variant identified in a patient with neuronal migration disorder which could further expand the phenotypic spectrum of these genetic disorders.
Date Issued
2019-06-01
Date Acceptance
2019-02-03
Citation
Journal of Genetics, 2019, 98 (2)
URI
DOI
ISSN
0022-1333
Publisher
Springer
Journal / Book Title
Journal of Genetics
Volume
98
Issue
2
Copyright Statement
© 2019 Indian Academy of Sciences.
Identifier
http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000469838400004&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=1ba7043ffcc86c417c072aa74d649202
Subjects
Science & Technology
Life Sciences & Biomedicine
Genetics & Heredity
ohtahara syndrome
whole exome sequencing
neuronal migration disorders
SCN2A gene
developmental delay
children
POLYMICROGYRIA
ENCEPHALOPATHY
MALFORMATIONS
ABNORMALITIES
EPILEPSY
TUBB2B
Publication Status
Published
Article Number
54
Date Publish Online
2019-05-30