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      https://www.ias.ac.in/article/fulltext/jgen/098/0054

    • Keywords

       

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

    • 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 dayof 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.

    • Author Affiliations

       

      VICTORIA VLACHOU11 LINE LARSEN2 EFTERPI PAVLIDOU3 NAILA ISMAYILOVA1 N. D. MAZARAKIS4 MANTHA PANTAZI5 KSHITIJ MANKAD6 MARIA KINALI7

      1. Department of Paediatric Neurology, Chelsea and Westminster NHS Foundation Trust, London SW10 9NH, UK
      2. Amplexa Genetics A/S, Tolderlundsvej, 3B2 5000 Odense C, Denmark
      3. Department of Paediatrics, University General Hospital of Thessaloniki AHEPA, 546 21 Thessaloníki, Greece
      4. Gene Therapy Centre for Neuroinflammation and Neurodegeneration Division of Brain Sciences, Faculty of Medicine, Imperial College London, Hammersmith Hospital Campus, London W12 0NN, UK
      5. Department of Paediatrics, General Hospital of Ioannina G. Hatzikosta, Leof. Str. Makrigianni 1, 454 45 Ioannina, Greece
      6. Department of Radiology, Great Ormond street Hospital, Great Ormond St, London WC1N 3JH, UK
      7. The Portland Hospital for Women and Children, London W1W 5AH, UK
    • Dates

       
  • Journal of Genetics | News

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