STXBP1 germline mutation and focal cortical dysplasia
| Autor: | A. A. Sharkov, Olivier Dulac, Svetlana Gataullina |
|---|---|
| Rok vydání: | 2021 |
| Předmět: |
Pathology
medicine.medical_specialty Encephalopathy Mutation Missense Temporal lobe Munc18 Proteins Germline mutation medicine Humans STXBP1 Missense mutation Germ-Line Mutation business.industry Electroencephalography General Medicine Cortical dysplasia medicine.disease Magnetic Resonance Imaging Phenotype Malformations of Cortical Development Neurology Child Preschool Mutation (genetic algorithm) Epilepsies Partial Neurology (clinical) business |
| Zdroj: | Epileptic Disorders. 23:143-147 |
| ISSN: | 1950-6945 1294-9361 |
| DOI: | 10.1684/epd.2021.1245 |
| Popis: | 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]. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
Plný text