Epilepsy phenotypes associated with MAP1B-related brain malformations (notice n° 611585)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01775cam a2200217 4500500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250121162604.0 |
| 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 | Arya, Ravindra |
| Relator term | author |
| 245 00 - TITLE STATEMENT | |
| Title | Epilepsy phenotypes associated with MAP1B-related brain malformations |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Date of publication, distribution, etc. | 2021.<br/> |
| 500 ## - GENERAL NOTE | |
| General note | 26 |
| 520 ## - SUMMARY, ETC. | |
| Summary, etc. | Recently, studies on whole-exome sequencing (WES) of large cohorts of people with periventricular heterotopia (PVH) have reported an association with loss-of-function variants in the MAP1B gene. However, neurological phenotypes of these patients remain poorly characterized. Four family members with seizures beginning in early childhood were evaluated. Integrated genomic analysis with WES and microarray was performed. Affected family members had various combinations of: febrile, fever-triggered and afebrile seizures; photo-sensitivity; comorbid mild developmental delays; obsessive-compulsive behaviors; and poor attention span. Neuroimaging showed PVH, corpus callosum abnormalities, and perisylvian polymicrogyria. A novel heterozygous frameshift variant in MAP1B was found in all affected family members. This report extends the clinical and neuroimaging phenotypes associated with MAP1B pathogenic variants. MAP1B variants may be considered in patients with febrile and afebrile seizures if characteristic neuroimaging, particularly PVH, is observed. |
| 690 ## - LOCAL SUBJECT ADDED ENTRY--TOPICAL TERM (OCLC, RLIN) | |
| Topical term or geographic name as entry element | genetic epilepsy |
| 690 ## - LOCAL SUBJECT ADDED ENTRY--TOPICAL TERM (OCLC, RLIN) | |
| Topical term or geographic name as entry element | periventricular heterotopia |
| 690 ## - LOCAL SUBJECT ADDED ENTRY--TOPICAL TERM (OCLC, RLIN) | |
| Topical term or geographic name as entry element | perisylvian polymicrogyria |
| 700 10 - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Spaeth, Christine |
| Relator term | author |
| 700 10 - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Zhang, Wenying |
| Relator term | author |
| 786 0# - DATA SOURCE ENTRY | |
| Note | Epileptic Disorders | Vol 23 | 2 | 2021-02-01 | p. 392-396 | 1294-9361 |
| 856 41 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://shs.cairn.info/revue-epileptic-disorders-2021-2-page-392?lang=en&redirect-ssocas=7080">https://shs.cairn.info/revue-epileptic-disorders-2021-2-page-392?lang=en&redirect-ssocas=7080</a> |
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