A Chinese patient with epilepsy and WWOX compound heterozygous mutations (notice n° 246349)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01875cam a2200265 4500500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250112070540.0 |
| 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 | He, Jing |
| Relator term | author |
| 245 00 - TITLE STATEMENT | |
| Title | A Chinese patient with epilepsy and WWOX compound heterozygous mutations |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Date of publication, distribution, etc. | 2020.<br/> |
| 500 ## - GENERAL NOTE | |
| General note | 94 |
| 520 ## - SUMMARY, ETC. | |
| Summary, etc. | Early infantile epileptic encephalopathy type 28 is a refractory epilepsy with early onset, poor prognosis, and hereditary causes. WW domain-containing oxidoreductase ( WWOX) gene mutation can result in epileptic encephalopathy, but the mechanism remains unclear. We present the case of a patient with epilepsy and WWOX compound heterozygous mutations. The seizures manifested as tonic-clonic, convulsive and were refractory to drugs. Magnetic resonance imaging showed a widened subarachnoid space and thin corpus callosum. The patient died from asphyxia at the age of one year and 23 days. Peripheral blood was taken from the patient and his parents, and whole-exome sequencing was investigated to determine possible gene mutation. Two compound heterozygous mutations were identified: c.172+1G>C (with no amino acid change) and c.984C>G (amino acid change: p.Tyr328Ter). The pathophysiology of epileptic encephalopathy related to the WWOX gene remains to be determined, and further studies are required to elucidate possible mechanisms. |
| 690 ## - LOCAL SUBJECT ADDED ENTRY--TOPICAL TERM (OCLC, RLIN) | |
| Topical term or geographic name as entry element | WWOX gene |
| 690 ## - LOCAL SUBJECT ADDED ENTRY--TOPICAL TERM (OCLC, RLIN) | |
| Topical term or geographic name as entry element | compound heterozygous mutations |
| 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 | Whole-exome sequencing |
| 690 ## - LOCAL SUBJECT ADDED ENTRY--TOPICAL TERM (OCLC, RLIN) | |
| Topical term or geographic name as entry element | epileptic encephalopathy |
| 700 10 - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Zhou, Wenjing |
| Relator term | author |
| 700 10 - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Shi, Jie |
| Relator term | author |
| 700 10 - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Zhang, Bingqing |
| Relator term | author |
| 700 10 - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Wang, Haixiang |
| Relator term | author |
| 786 0# - DATA SOURCE ENTRY | |
| Note | Epileptic Disorders | Vol 22 | 1 | 2020-01-01 | p. 120-124 | 1294-9361 |
| 856 41 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://shs.cairn.info/revue-epileptic-disorders-2020-1-page-120?lang=en">https://shs.cairn.info/revue-epileptic-disorders-2020-1-page-120?lang=en</a> |
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