Objective To study the influence of SCNIA intronic mutations in mRNA splicing in febrile seizures related epilepsy,and investigate the association between splicing changes and genotype-phenotype-inheritance pattern.Methods Molecular cloning of 5 SCN1A intronic mutations was performed in patients with partial epilepsy with antecedent febrile seizures plus (PEFS+) and Dravet syndrome (DS) through constructing mutant and wild-type plasmids of pTragetE2-3-4-5 and E24-25-26 by using Minigene splicing assay,and the in vitro expressions in HENK293 cells were detected.The mRNA splicing changes were analyzed qualitatively and quantitatively by reverse transcription (RT)-PCR and real time quantitative (q)-PCR.Results (1) Using RT-PCR,DS mutants presented a whole exon skipping without significant remain of normal mRNA transcripts,while PEFS+ mutants showed partial exon skipping or intronic insertion with coexistence of normal and aberrant mRNA transcripts.(2) Statistical differences were found between relative quantity (RQ) of aberrant and normal mRNA in PEFS+ mutant (c.473+5G＞A:4.92％±1.05％ and 6.10％±0.21％;c.473+5G＞C:7.97％±1.12％ and 3.94％ ±1.25％) and that in DS mutant (c.602+1G＞A:60.51％±1.81％ and 0.060％±0.022％,P＜0.05);similarly,there were statistical differences between relative RQ of normal and aberrant mRNA in PEFS+ mutant c.4853-25T＞A (71.22％±11.92％ and 7.38％±1.61％) and that in DS mutant c.4853-1G＞C (0.08％±0.01％ and 22.11％±2.83％,P＜0.05).Conclusion The position and difference of splicing patterns of SCNIA intronic mutations are potential molecular pathogenesis for phenotypic difference of febrile seizures related epilepsy.

Myxomas are the most frequent, cardiac benign cardiac tumors which often present with stroke caused by tumorous orthrombotic emboli. The treatment of embolic stroke due to cardiac myxoma is still a clinical and technical challenge. A 61-year-old man who had an embolic stroke in the left middle cerebral artery was admitted to the Third Poeple′s Hospital of Huizhou. The initial National Institutes of Health Stroke Scale (NIHSS) score was 16. He received endovascular thrombectomy after intravenous recombinant tissue plasminogen activator (rt-PA) one hour after stroke onset. No intracranial hemorrhage developed. Pathological study of embolus showed a myxoma. A cardiac mass was found in the left atrium and removed surgically three weeks after stroke. Pathological study of the tumor showed a myxoma. At the one-month follow-up after excision of myxoma, the NIHSS score was 1 and the modified Rankin scale score was 0. No recurrence of embolism occurred after surgical resection. Endovascular thrombectomy after intravenous rt-PA (bridging therapy) for embolic stroke due to cardiac myxoma is safe and effective, and early resection of atrial myxoma can effectively avoid recurrence of cerebral infarction.