ObjectiveMalformations of cortical development (MCDs) are increasingly identified as important etiology for refractory epilepsy. Little is known about the spectrum, distribution and clinical features of MCDs, especially in a resource-limited region. This study investigated the distribution and compared the clinical features and long-term prognosis between simple and multiple forms. MethodsConsecutive 150 epilepsy patients with pathologically or radiologically confirmed MCDs were included from a tertiary epilepsy center in western China. Patients were divided into three subtypes according to the scheme of Barkovich, also Simple and Multiple forms based on whether single type of MCDs or other brain developmental abnormalities co-existed. ResultsThe most common type of MCDs is focal cortical dysplasia, and China is still in the early phase of implementing surgical treatments. We found perinatal insults more common in sub-group III patients. Furthermore, 'Multiple' form was identified in 36/150 patients. Patients with heterotopias were more commonly associated with other abnormalities. ConclusionMCDs are critical causes for epilepsy, also a big challenge for resource-limited countries. Imaging techniques are crucial in diagnosing and classifying cortical deformities. Multiple malformations lead to more severe clinical features and worsen the prognosis, helping physicians to seek the best therapeutic option, also assists in classifying MCDs.
ObjectiveThe aim of this study is to identify clinical and electroencephalographic features associated with refractoriness to the initial antiepileptic drug in typical benign childhood epilepsy with centrotemporal spikes (BECTS). MethodsA total of 87 children with typical BECTS were retrospectively reviewed in the analyses.The patients were subdivided into two groups:patients whose seizures were controlled with monotherapy, and those requiring two medications. 63 childrenachieved seizure-freedom with monotherapy, while 24 received two medications for seizure control. ResultsDiffusing foci at the follow-up EEG and delayed treatment (duration > 1 year) are two main risk factors associated with more refractory cases (P < 0.001). Delayed diagnosis (37.1%) and non-adherence to treatment (57.2%) contributed to delayed treatment. ConclusionsOur findings suggested that diffusing foci on EEG and delayed treatment are associated with more frequent seizures and refractoriness in BECTS. Diagnostic delays and non-adherence hindered timely care, which may represent opportunities for improved intervention.
ObjectiveThe aim of this study was to investigate the pathogenesis of AED-induced SJS/TEN across the spectrum of HLA-A, -B and -DRB1 alleles, and to explore the different clinical characteristics of patients with and without the HLA-B*15:02 allele in the SJS/TEN group. MethodsA total of twenty-three patients exhibiting AED-induced SJS/TEN (16 CBZ-SJS/TEN, seven LTG-SJS/TEN) and fifty-two patients who exhibited tolerance to AEDs were recruited. High-resolution HLA genotyping was performed to estimate the prevalence of the HLA-A, -B and -DRB1 alleles for each subject. Patients in the SJS/TEN group were further divided to positive HLA-B*15:02 allele group and negative HLA-B*15:02 allele group depending on whether carrying the HLA-B*15:02 allele, and the clinical feathers were compared between the two groups. ResultsNine of twenty-three patients (39%) in the SJS/TEN group were male, and the mean age of this group was 32 (8-68) years old. Twenty-eight of fifty-four (54%) patients in the tolerant group were male, and the mean age of the tolerant group was 28 (9-64) years old.Fourteen subjects in the SJS/TEN group carried the HLA-B*15:02 allele, whereas only four subjects (7.7%) in the AED-tolerant group carried this allele; the carrier rate of HLA-B*15:02 was significantly different between the groups (P<0.001). Among the fourteen patients who carried the HLA-B*15:02 allele in the SJS/TEN group, composing the positive HLA-B*15:02 allele group, eight patients (57.1%) were female, whereas six of nine patients in the negative HLA-B*15:02 allele group were female. The difference of the gender didn't have statistical significance between the two groups, nor did the other clinical characteristics, including mean age, the dosage of the AEDs, the interval from the drug administration to the onset of the SJS/TEN, fever, allergic history, abnormal MRI and abnormal EEG results. ConclusionsThe pathogenesis of AED-induced SJS/TEN is a complex process, which may involve one or more alleles. The HLA-B*15:02 allele may be a genetic susceptibility factor of the AED-induced SJS/TEN. However, we didn't find significant difference of the clinical characteristics of SJS/TEN between the patients with and without the HLA-B*15:02 allele. Notably, further studies using larger samples are required to confirm these conclusions.