| 000 | 01875cam a2200265 4500500 | ||
|---|---|---|---|
| 005 | 20250112070540.0 | ||
| 041 | _afre | ||
| 042 | _adc | ||
| 100 | 1 | 0 |
_aHe, Jing _eauthor |
| 700 | 1 | 0 |
_a Zhou, Wenjing _eauthor |
| 700 | 1 | 0 |
_a Shi, Jie _eauthor |
| 700 | 1 | 0 |
_a Zhang, Bingqing _eauthor |
| 700 | 1 | 0 |
_a Wang, Haixiang _eauthor |
| 245 | 0 | 0 | _aA Chinese patient with epilepsy and WWOX compound heterozygous mutations |
| 260 | _c2020. | ||
| 500 | _a94 | ||
| 520 | _aEarly 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 | _aWWOX gene | ||
| 690 | _acompound heterozygous mutations | ||
| 690 | _ainfantile epilepsy | ||
| 690 | _aWhole-exome sequencing | ||
| 690 | _aepileptic encephalopathy | ||
| 786 | 0 | _nEpileptic Disorders | Vol 22 | 1 | 2020-01-01 | p. 120-124 | 1294-9361 | |
| 856 | 4 | 1 | _uhttps://shs.cairn.info/revue-epileptic-disorders-2020-1-page-120?lang=en |
| 999 |
_c246349 _d246349 |
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