STXBP1 germline mutation and focal cortical dysplasia (notice n° 611463)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01554cam a2200241 4500500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250121162529.0 |
| 041 ## - LANGUAGE CODE | |
| Language code of text/sound track or separate title | fre |
| 042 ## - AUTHENTICATION CODE | |
| Authentication code | dc |
| 100 10 - MAIN ENTRY--PERSONAL NAME | |
| Personal name | Sharkov, Artem |
| Relator term | author |
| 245 00 - TITLE STATEMENT | |
| Title | STXBP1 germline mutation and focal cortical dysplasia |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Date of publication, distribution, etc. | 2021.<br/> |
| 500 ## - GENERAL NOTE | |
| General note | 100 |
| 520 ## - SUMMARY, ETC. | |
| Summary, etc. | 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]. |
| 690 ## - LOCAL SUBJECT ADDED ENTRY--TOPICAL TERM (OCLC, RLIN) | |
| Topical term or geographic name as entry element | temporal lobe |
| 690 ## - LOCAL SUBJECT ADDED ENTRY--TOPICAL TERM (OCLC, RLIN) | |
| Topical term or geographic name as entry element | infantile epilepsy |
| 690 ## - LOCAL SUBJECT ADDED ENTRY--TOPICAL TERM (OCLC, RLIN) | |
| Topical term or geographic name as entry element | focal seizures |
| 690 ## - LOCAL SUBJECT ADDED ENTRY--TOPICAL TERM (OCLC, RLIN) | |
| Topical term or geographic name as entry element | MRI |
| 690 ## - LOCAL SUBJECT ADDED ENTRY--TOPICAL TERM (OCLC, RLIN) | |
| Topical term or geographic name as entry element | PCDH19 encephalopathy |
| 700 10 - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Dulac, Olivier |
| Relator term | author |
| 700 10 - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gataullina, Svetlana |
| Relator term | author |
| 786 0# - DATA SOURCE ENTRY | |
| Note | Epileptic Disorders | Vol 23 | 1 | 2021-01-01 | p. 143-147 | 1294-9361 |
| 856 41 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://shs.cairn.info/revue-epileptic-disorders-2021-1-page-143?lang=en&redirect-ssocas=7080">https://shs.cairn.info/revue-epileptic-disorders-2021-1-page-143?lang=en&redirect-ssocas=7080</a> |
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