ObjectiveTo explore the molecular characteristics of partial epilepsy with febrile seizures plus(PEFS+). MethodsWe systematically reviewed all SCN1A mutation-related publications that published between Jan.2000 and Dec.2014 on Pubmed and established a database of SCN1A mutations (http://www.gzneurosci.com/SCN1Adatabase/). The characteristics of mutations that cause PEFS+ were analyzed and compared with that of severe myoclonic epilepsy in infancy (SMEI). ResultsThe database included 1, 257 SCN1A mutations, which identified from 1, 727 unrelated cases. In which there were 30 mutations, from 32 unrelated cases, were associated with PEFS+. 76.7% (23/30) mutations were missense, of which 47.8% (11/23) were located on pore region. Significant difference in the percentage of truncation mutation was observed between PEFS+ and SMEI (P < 0.05). There was no significant difference in the percentage of missense mutation that located on the pore region between PEFS+ and SMEI; but the differ significantly in D-value of the missense mutations, which quantified the alteration of amino acid(P=0.042, rank sum test). ConclusionsPEFS+, which distinguishes from GEFS+ and SMEI in clinical and molecular characteristics, is a special phenotype of epilepsy that is associated with SCN1A mutations.
Objective To explore the efficacy of low to moderate doses of levetiracetam in adult patients with newly diagnosed partial epilepsy and possible predictors for poor treatment response. Methods We retrospectively analyzed the clinical data of patients treated in West China Hospital from March 2011 to December 2015 whose clinical data were input into the Epilepsy database. Patients with newly diagnosed partial epilepsy and whose initial anti-epileptic drug was levetiracetam were screened out for this study. Their clinical data, especially responses to the treatment of levetiracetam were reviewed. Results Ninety-six patients were included in this study. Seventy-one of them achieved seizure-free for a complete year after initial treatment of levetiracetam. Forty-eight patients (50.0%) achieved seizure-free with levetiracetam monotherapy; 23 patients (24.0%) achieved seizure-free for one year with levetiracetam combination therapy. Sixty-nine (97.2%) of the 71 patients achieved seizure-free with low to moderate doses of levetiracetam (500 to 1 500 mg/day), with or without combination of other antiepileptic drugs. High baseline seizure frequency before initial therapy was an independent predictor of poor levetiracetam response in this multivariate logistic regression mode (P=0.019). Conclusions Low to moderate levetiracetam is both effective and well tolerated in newly diagnosed partial epilepsy patients. High baseline seizure frequency before initial therapy is an independent predictor of poor levetiracetam response.