In recent years,with the improvement of the genetic inspection techniques,some of the epileptic en-cephalopathy whose causes were unknown are associated with genetic factor.The result shows that one kind of epileptic encephalopathy may be associated with a variety of genetic mutations or copy number variation (CNV),one gene muta-tion or CNV also may lead to a lot of epileptic encephalopathy.In addition,the new clinical features and genetic poly-morphism were discovered increased.So that epileptic encephalopathy which named from the disease -causing gene was also increased.This article will summarize the clinical phenotype characteristics,genetic studies and future of the newly discovered CHD2 myoclonus encephalopathy.

Objective To investigate the effects of the 2,3,4′,5-Tetrahydroxystilbene -2-O-beta-D-glucoside on the prolif-eration of PASMCs induced by hypoxia , in orde to search new drugs for the treatment and prevention of hypoxic pulmonary vascular remod -eling.Methods 3%O2 hypoxia was used to induced the proliferation of PASMCs .After hypoxic and TSG treatment for 24h, cell growth was determined by cell counting kit -8 ( CCK-8 ) , cell cycle was analysed by flow cytometry , the mRNA expression of HIF -1αwas measured by quantitative real -time PCR, and the reactive oxygen species ( ROS) production was determined by the fluorescence micro-plate reader .Results TSG can block the proliferation of PASMCs through G 0/G1 to S phase of the cell cycle arrest without cell cytotoxic-ity.Further experiments showed that TSG blocking the proliferation of PASMCs was associated suppression the mRNA expression of HIF -1αand the production of intracellular ROS in hypoxia -stimulated-PASMCs.Conclusion TSG can inhibit the proliferation of pulmo-nary artery smooth muscle cells induced by hypoxia through suppression the mRNA expression of HIF -1αand the production of intracel-lular ROS.

To explore the pathogenic factors and diagnosi s of cerebral palsy (CP) in children, perinatal history, clinical evaluation, im aging and electrophysiological data and parents' attitude for rehabilitation of CP were analyzed and investigated in 50 children with CP retrospectively. The re sults showed that prem ature birth, low birth weight and perinatal asphyxia were the most pathogenic fa ctors induced CP. The common CP types was spastic paralysis, in particular quadr iparesis. Abnormal CT and MRI findings were detected in 68% of CP children. It w as noticed that 44% of CP children were with speech and language disorder, 32% w i th mental retardation, 18% with hearing impairment, 16% with visual impairment a nd 16% with epilepsy. There were 86% parents to accept with physiotherapy on the ir CP children, 68% with acupuncture therapy, 46% with occupational therapy and 100% with speech therapy, respectively. It is suggested that multi-subjec t cooperation will be necessary for the follow-up study of the high- risk infants. The realization of the related-speciality knowledge a nd the enhancement of rehabilitational conception will be helpful for the early diagnosis and intervention of CP patients. The popularization of rehabilitationa l conception will be also important in the parents with CP children.

Christianson syndrome is a rare X-linked disease caused by mutations in the SLC9A6 gene. The clinical manifestations are male developmental delay, language disorder, seizures, mental retardation, ataxia, microcephaly and so on. Two cases of male children with Christianson syndrome were reported. The proband was 1 year and 11 months old. Clinical manifestations include microcephaly, global developmental delay, and seizures. The electroencephalogram showed that the central midline region of spikes and slow waves were emitted, and all exons sequencing detected a mutation in the SLC9A6 gene chrX: 135084373 [c.803+1(IVS6)G>A]. The proband′s brother was 4 years and 8 months old. The clinical manifestations were similar. The electroencephalogram showed spikes and spines in the Rolandic area on both sides. Slow waves and spiny slow waves were emitted. Magnetic resonance imaging suggested brain atrophy. The genetic verification results were consistent with the proband. The SLC9A6 gene c.803+1(IVS6) G>A splicing mutation was a pathogenic mutation in this family.

Objective: To investigate the clinical features and genetic characteristics of patients with TBC1D24 gene mutations. Method: The clinical data of a patient with novel TBC1D24 compound heterozygous mutations from Children′s Hospital of Fudan University were collected, the related literature was searched from China National Knowledge Infrastructure, Wanfang Data Knowledge Service Platform, National Center from Biotechnology Information and Pubmed (up to April 2016) by using search terms "TBC1D24" "epilepsy" . The clinical features, electroencephalogram (EEG) and prognosis of the patients with TBC1D24 gene mutations were studied. Result: The patient was a boy with non-consanguineous healthy parents.He had an acute episode of focal continuous myoclonus lasting a few hours with consciousness preserved at the age of 3 months.Myoclonic jerks alternatively affected the eyelids, either the right or left limbs, sometimes triggered by fever or fatigue.The frequency was once 3-7 days.At the age of 6 months he was found to have myoclonus seizures with onset from a unilateral eyes lid and limb lasting 10 more minutes and subsequently affected four extremities or the trunk.They occurred once 3-4 months with perserved consciousness and lasted from several hours to up to ten more hours.They mostly disappeared during sleep.He had ataxia and mild mental retarding.Paroxysmal anomalies were not found on ictal traces.A novel compound heterozygous mutation of TBC1D24 gene, c. 730G>A, p.A244T and c. 1571G>C, p.R524P were found in the patient.Further study showed that c. 730G>A mutation was inherited from his father and c. 1571G>C from his mother. These two were not reported in public databases and predicted deleterious by Mutation Taster and polyphen-2.Literature relevant to TBC1D24 published all around the world was reviewed, no Chinese cases with TBC1D24 gene mutations had been reported. The total of 24 cases including the present case with TBC1D24 gene mutation were reported.Among them, 11 cases had compound heterozygous mutations and 13 cases had homozygous mutations.Ten mutations were identified, including 1 termination mutation, 1 frameshift mutation and 8 missense mutations. Conclusion TBC1D24 gene mutational analysis should be performed on patients with early-onset focal continuous myoclonus, if the etiology was unclear.

Objective: To summarize the gene mutation of early onset epileptic spasm with unknown reason. Method: In this prospective study, data of patients with early onset epileptic spasm with unknown reason were collected from neurological department of Children's Hospital of Fudan University between March 2016 and December 2016. Patients with known disorders such as infection, metabolic, structural, immunological problems and known genetic mutations were excluded. Patients with genetic disease that can be diagnosed by clinical manifestations and phenotypic characteristics were also excluded. Genetic research methods included nervous system panel containing 1 427 epilepsy genes, whole exome sequencing (WES), analysis of copy number variation (CNV) and karyotype analysis of chromosome. The basic information, phenotypes, genetic results and the antiepileptic treatment of patients were analyzed. Result: Nine of the 17 cases with early onset epileptic spasm were boys and eight were girls. Patients' age at first seizure onset ranged from 1 day after birth to 8 months (median age of 3 months). The first hospital visit age ranged from 1 month to 2 years (median age of 4.5 months). The time of following-up ranged from 8 months to 3 years and 10 months. All the 17 patients had early onset epileptic spasm. Video electroencephalogram was used to monitor the spasm seizure. Five patients had Ohtahara syndrome, 10 had West syndrome, two had unclear classification. In 17 cases, 10 of them had detected pathogenic genes. Nine cases had point mutations, involving SCN2A, ARX, UNC80, KCNQ2, and GABRB3. Except one case of mutations in GABRB3 gene have been reported, all the other cases had new mutations. One patient had deletion mutation in CDKL5 gene. One CNV case had 6q 22.31 5.5MB repeats. Ten cases out of 17 were using 2-3 antiepileptic drugs (AEDs) and the drugs had no effect. Seven cases used adrenocorticotropic hormone (ACTH) and prednisone besides AEDs (a total course for 8 weeks). Among them, five cases had no effect and two cases were seizure free recently. A case with GABRB3 (C.905A>G) had seizure controlled for 3 mouths. A case with ARX (C.700G>A) had seizure controlled for 6 mouths. Conclusion The early onset epileptic spasm with unknown reason is highly related to genetic disorders. A variety of genetic mutations, especially new mutations were found. Genetic heterogeneity of epileptic spasm is obvious.

Objective To evaluate the role of dynamic contrast-enhanced magnetic resonance imaging (MRI) in the diagnose of prostatic cancer and benign prostatic hyperplasia (BPH), and to determine the correlation between dynamic MRI findings with angiogenesis.Methods Thirty-two cases of prostatic cancer and 40 cases of BPH underwent dynamic contrast-enhanced MRI.All the patients in this study were diagnosed by histopathology.The results of dynamic contrast-enhanced MRI were evaluated by early-phase enhancement parameters and time-signal intensity curves (SI-T curves), and the curves were classified according to their shapes as type Ⅰ, which had steady enhancement; type Ⅱ, plateau of signal intensity; and type Ⅲ, washout of signal intensity.The pathologic specimens of region of interest (ROI) were obtained, and HE staining, immunohistochemical vascular endothelial growth factor (VEGF), and microvessel density (MVD) measurements were performed.The relationships among dynamic contrast-enhanced MRI features, VEGF, and MVD expression were analyzed.Results In the early-phase enhancement parameters of dynamic contrast-enhanced MRI, onset time,maximum signal intensity, and early-phase enhancement rate differed between prostatic cancer and BPH(P

Anti-seizure medications (ASMs) are the main therapy for epilepsy.There are many kinds of ASMs with complex mechanism of action, so it is difficult for pharmacists to examine prescriptions.This paper put forward some suggestions on the indications, dosage forms/routes of administration, appropriateness of usage and dosage, combined medication and drug interaction, long-term prescription review, individual differences in pathophysiology of children, and drug selection when complicated with common epilepsy, for the reference of doctors and pharmacists.

Objective: To summarize the clinical and genetic features of β-propeller protein-associated neurodegeneration (BPAN). Methods: The clinical data of 17 patients with BPAN with WDR45 gene variants were retrospectively collected at Children’s Hospital of Fudan University, Peking University First Hospital, Capital Institute of Pediatrics, Shengjing Hospital of China Medical University and Shanghai Children's Hospital from June 2016 to December 2018, and their clinical manifestations, electroencephalogram, neuroimaging and genetics were analyzed. Results: Seventeen cases (13 females, 4 males), aged 1.1-8.8 years, were included. The median age of seizure onset was 14.5 months, from 3 months to 24 months of age, manifested with epileptic spasm in 6 cases and focal seizures in 5 cases. Eight patients had only one seizure type and 8 patients had two or more seizure types. Nine patients had complete remission of seizures. All 16 patients with seizures had developmental delay before the seizure onset, of whom 13 patients had moderate to severe seizures. The brain magnetic resonance imaging (MRI) was abnormal in 13 patients, including cerebral atrophy (10 cases) and thinning of the corpus callosum (9 cases). The brain magnetic susceptibility weighted imaging (SWI) in preschool stage showed prominent T2 hypointense signals in bilateral globus pallidus and brainstem ventral in two cases. Five seizure types (spasm, focal, absence, myodonic and generalized tonic clonic seizures)were found on ictal electroencephalogram(EEG) recordings. Compared to female patients(17(6-24) months of ege), male cases had earlier seizure onset (3, 4, 5, 18 months of age) . All patients had de novo variations in WDR45(6 nonsense, 4 frameshift, 3 missense and 4 splicing variations), with hemizygous variants in 3 males, mosaic variants in a male and heterozygous variants in 13 females, within which 5 variations had not been reported (c.977-1C>T,c.976+1G>C,c.10C>T,c.806del and c.110T>C). Conclusions The patients with BPAN have profound developmental delay and are vulnerable to seizures. The male patients with BPAN tend to have more severer clinical phenotype than females. Early brain SWI could facilitate the timely diagnosis of this disease.