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find Author "周渊峰" 3 results
  • DNM1 gene pathogenic variation in 3 cases with early infantile epileptic encephalopathy-31 and Literature review

    ObjectiveTo explore the clinical, genetic and prognostic features of early infantile epileptic encephalopathy caused by DNM1 gene pathogenic variations.MethodsClinical phenotype, genotype and prognosis of 3 individuals with de novo variants in DNM1 gene were analyzed retrospectively. Through using “Dynamin-1” or “DNM1” as key words to search literature at database of China National Knowledge Infrastructure, Wanfang, PubMed and OMIM. Genotype-phenotype correlations were analyzed by analysis of variance (ANOVA).ResultAmong the 3 patients, 1 female and 2 males. 2 cases with epileptic spasm and 1 case with focal clonic seizure or secondary generalized tonic-clonic seizure were manifested with onset age from 2 to 17 months. De novo variants at NM_004408.4: c.415 G>A(P. Gly 139Arg) in 2 inviduals and NM_004408.4: c.545 C>A(P. Ala 182Asp)in 1 invidual of DNM1 gene were identified by gene testing. After follow-up at age of 2~3 years, all patients were presented with hypotonia, severe intellectual disability, non-verbal, non-ambulatory, drug-resistant epilepsy and feeding difficulties. 36 cases with pathogenic DNM1 variants were reported by far, totally 39 cases were included. Of the 39 patients, hypotonia were found to be independent of the locus of genetic variants, while those inviduals with variants in the GTPase and middle domains almost presented severe or profound intellectual disability and epilepsy. 31 patients diagnosed with epilepsy and complete clinical data were further analyzed, epileptic spasm was the most common types of seizure. Absent seizure was significantly more common in those patients with variants in the GTPase domains (P=0.02), compared to those patients with variants in the middle domains. No statistical differences were found in gender, onset age, other types of seizure and drug treatment response between variants in the GTPase and middle domains.ConclusionHypotonia, early onset epilepsy, severe intellectual and movement disability were the common features in patients with DMN1 related encephalopathy. Epileptic spasm was the most common types of seizure, no significant differences were found in the phenotype between the GTPase and middle domains expect for absent seizure. Our patients also presented with feeding difficulties.

    Release date:2021-04-25 09:50 Export PDF Favorites Scan
  • 20 号环形染色体综合征一例

    Release date:2020-03-20 08:06 Export PDF Favorites Scan
  • Clinical features and outcomes of resective surgery in children with frontal lobe epilepsy: The experience of children’s epilepsy center

    Objective To investigate clinical features and surgical outcome in children with frontal lobe epilepsy by evaluating the correlation between the predictive factors and seizure freedom. Methods 18 children who underwent frontal lobe epileptogenic resection in the Epilepsy Center of the Children's Hospital of Fudan University between January 2017 and December 2019 with a minimum follow up of 2 year were analyzed retrospectively. Each patient was evaluated with detailed data to predict postsurgical seizure freedom by analysis of variance. Results Of the 18 patients, there were 11 males and 7 females, the age at surgery ranged from 21 months to 11 years old (6.8±2.73) and the duration of seizures was from 1 month to 9 years. 17 patients had focal seizures, while 1 had generalized epileptic spasm. In scalp EEG, interictal and initial ictal discharges were frontal in 11 and 9 cases, respectively. MRI was indicative of FCD in 10 cases, tumor in 2, tuberous sclerosis and gliosis lesion in 1 case each. 4 patients were MRI negative. 11 patients underwent epileptogenic lesion resections directly and 7 cases received depth electrodes implantation and underwent stereo-electroencephalography to localize epileptogenic zone. At follow-up of 2 years, 14 (77.8%) patients remained seizure-free (Engel Ⅰ), 1 (5.6%) had marked seizure reduction (Engel Ⅱ), 2 (11.0%) showed minor improvement (Engel Ⅲ), and only 1 (5.6%) showed no response (Engel Ⅳ). About predictors of seizure recurrence, there were no significant differences in gender, age at surgery, age of seizure onset, duration of epilepsy, lateralization of epileptogenic zone, positive MRI findings, interictal and ictal discharge, etiology, intellectual development and stereo-electroencephalography implantation, while significantly higher rates of seizure freedom correlated with complete the resection of the epileptogenic zone. Conclusions Focal cortical dysplasia is the most common cause in childhood with frontal lobe epilepsy and complete resection of the epileptogenic zone can lead to good seizure control outcome.

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