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STXBP1 germline mutation and focal cortical dysplasia
Author(s) -
Sharkov Artem,
Dulac Olivier,
Gataullina Svetlana
Publication year - 2021
Publication title -
epileptic disorders
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.673
H-Index - 53
eISSN - 1950-6945
pISSN - 1294-9361
DOI - 10.1684/epd.2021.1245
Subject(s) - cortical dysplasia , dysplasia , missense mutation , germline mutation , mutation , pathology , biology , medicine , neuroscience , epilepsy , genetics , gene
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 S TXBP1 mutation in whom imaging features of focal cortical dysplasia on MRI have been reported, implying a possible role of S TXBP1 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 ].