John Libbey Eurotext

Epileptic Disorders

The Educational Journal of the

Neonatal tremor episodes and hyperekplexia-like presentation at onset in a child with SCN8A developmental andepileptic encephalopathy Volume 20, issue 4, August 2018

Videos

  • Neonatal tremor episodes and hyperekplexia-like presentation at onset in a child with SCN8A developmental and epileptic encephalopathy
  • Neonatal tremor episodes and hyperekplexia-like presentation at onset in a child with SCN8A developmental and epileptic encephalopathy
  • Neonatal tremor episodes and hyperekplexia-like presentation at onset in a child with SCN8A developmental and epileptic encephalopathy

Figures

  • Figure 1
Authors
1 Service de Génétique, Laboratoire de Cytogénétique Constitutionnelle, Centre de Biologie et de Pathologie Est, Hospices Civils de Lyon
2 Lyon Neuroscience Research Centre (CRNL), GENDEV team, CNRS UMR 5292, INSERM U1028, UCBL1
3 Université Claude Bernard Lyon 1, Lyon
4 Department of Paediatric Clinical Epileptology, Sleep Disorders and Functional Neurology, HFME, University Hospitals of Lyon (HCL), Member of the European Reference Network EPICARE, Lyon
5 Lyon Neuroscience Research Centre (CRNL), DYCOG team, INSERM U1028; CNRS UMR 5292, Lyon
6 Service de Neurologie Pédiatrique, HFME, Hospices Civils de Lyon
7 Centre de Référence des Épilepsies Rares (CReER)Maladies, HFME-HCL, Lyon, France
* Correspondence: Dr Linda Pons Service de Génétique, Laboratoire de Cytogénétique Constitutionnelle, Centre de Biologie et de Pathologie Est, Hospices Civils de Lyon, 59 Boulevard Pinel, 69677 Bron Cedex, France
  • Key words: SCN8A, developmental and epileptic encephalopathy, hyperekplexia-like, tremor, movement disorder
  • DOI : 10.1684/epd.2018.0988
  • Page(s) : 289-94
  • Published in: 2018

SCN8A encephalopathy is a newly defined epileptic encephalopathy caused by de novo mutations of the SCN8A gene. We report herein a four-year-old boy presenting with severe non-epileptic abnormal movements, of possibly antenatal onset, progressively associated with pharmacoresistant epilepsy and regression, associated with a de novo heterozygous missense mutation of SCN8A. This case shows that paroxysmal non-epileptic episodes of severe tremor and hyperekplexia-like startles and a striking vegetative component can be the first early symptoms of severe SCN8A developmental and epileptic encephalopathy. Clinicians should be aware of these symptoms in order to avoid misdiagnosis and ensure early appropriate therapeutic management. [Published with video sequences on www.epilepticdisorders.com].