John Libbey Eurotext

STXBP1 germline mutation and focal cortical dysplasia Volume 23, issue 1, February 2021

Videos

  • <I>STXBP1</I> germline mutation and focal cortical dysplasia
  • <I>STXBP1</I> germline mutation and focal cortical dysplasia

Figures

  • Figure 1
  • Figure 2
Authors
1 Veltischev Research and Clinical Institute for Pediatrics of the Pirogov RNRMU
2 Genomed Ltd., Moscow, Russia
3 AdPueriVitam, Antony, France
4 Service d’explorations fonctionnelles, Sleep Disorders Center, Antoine Béclère Hospital, AP-HP, Clamart, France
5 Service de Pédiatrie, Hôpital André Grégoire, Centre Hospitalier Intercommunal, Montreuil, France
* Correspondence: Artem Sharkov Veltischev Research and Clinical Institute for Pediatrics of the Pirogov RNRMU

A child with a de novo STXBP1 heterozygous missense mutation, believed to be a pathogenic variant, presented with clustering focal seizures affecting both hemispheres. These had begun at the age of 10 months with a phenotype similar to that of PCDH19 encephalopathy. MRI suggested a similarity to focal cortical dysplasia, though further research is needed. There was no evidence of either suppression-bursts or infantile spasms. This new case adds to the few other cases of patients with STXBP1 mutation in whom imaging features of focal cortical dysplasia on MRI have been reported, implying a possible role of STXBP1 mutation in neuronal migration disorders. If such a mutation with focal seizures is suspected, the possibility of focal cortical dysplasia should be investigated. [Published with video sequences].