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Journal of Genetics

, 98:54 | Cite as

SCN2A mutation in an infant with Ohtahara syndrome and neuroimaging findings: expanding the phenotype of neuronal migration disorders

  • Victoria VlachouEmail author
  • Line Larsen
  • Efterpi Pavlidou
  • Naila Ismayilova
  • N. D. Mazarakis
  • Mantha Pantazi
  • Kshitij Mankad
  • Maria Kinali
Research Note
  • 45 Downloads

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.

Keywords

ohtahara syndrome whole exome sequencing neuronal migration disorders SCN2A gene developmental delay children 

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Copyright information

© Indian Academy of Sciences 2019

Authors and Affiliations

  1. 1.Department of Paediatric NeurologyChelsea and Westminster NHS Foundation TrustLondonUK
  2. 2.Amplexa Genetics A/SOdense CDenmark
  3. 3.Department of PaediatricsUniversity General Hospital of Thessaloniki AHEPAThessaloníkiGreece
  4. 4.Gene Therapy Centre for Neuroinflammation and Neurodegeneration Division of Brain Sciences, Faculty of MedicineImperial College LondonLondonUK
  5. 5.Department of PaediatricsGeneral Hospital of Ioannina G. HatzikostaIoanninaGreece
  6. 6.Department of RadiologyGreat Ormond street HospitalLondonUK
  7. 7.The Portland Hospital for Women and ChildrenLondonUK

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