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Neonatal hyperekplexia: a non-epileptic paroxysmal movement disorder with a novel homozygous mutation in the GLRB gene, a seizure mimic

Abstract

A male baby born out of consanguineous marriage (third degree) to a primigravida mother presented to our hospital on day 21 of life as his third hospitalisation with jerky movements, respiratory distress and refusal to feed. The baby had blood culture-positive sepsis, which was treated adequately. He was given antiseizure therapy for jerky movements, but there was no response to multiple antiseizure therapy, and then pyridoxine was added. A significant response was noted with the addition of clonazepam. Neuroimaging and electroencephalogram were normal. The whole exome sequencing suggested a homozygous mutation (frameshift variant c.97delA in exon 2 of the GLRB gene) associated with hyperekplexia 2, resulting in the amino acid substitution p.Lys34fs*27.

  • Epilepsy and seizures
  • Movement disorders (other than Parkinsons)
  • Neuro genetics
  • Neonatal and paediatric intensive care

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