Correlation analysis of clinic and SCN1A mutation in febrile seizures plus with autism / 实用医学杂志

Objective To study the clinical characteristics of autism in febrile seizures plus (FS+) and the relationship between autism and SCN1A mutation. Methods Clinical data of 103 patients with FS+ treated in epilepsy centre of the Second Affiliated Hospital of Guangzhou Medical University were collected and analyzed. According to the international criteria, generalized epilepsy with febrile seizures plus (GEFS+), partial seizures with febrile seizures plus (PEFS+), Dravet syndrome (DS) and autism were diagnosed. Genomic DNA was obtained from blood samples. SCN1A were PCR amplified and mutations were detected by DHPLC and sequencing. Result Mental retardation was found in 53.8%of patients with GEFS+, 69.2%of patients with PEFS+, and all patients with DS, respectively. One in GEFS+, one in PEFS+and nine in DS patients were accompanied with autism (P<0.01). Among FS+patients with autism, one SCN1A mutation was found in PEFS+patients, while six SCN1A mutations were found in DS patients. Conclusions Majority of GEFS+and PEFS+patients showed mental retardation, while all the DS patients were accompanied with retardation. The occurrence of autism with DS is higher than GEFS+and PEFS+. No definite relationship between autism and SCN1A mutation was indicated.

De novo sodium channel αl-subuult mutation of monozygotic twins with borderland severe myoclonic epilepsy in infancy / 中华神经科杂志

Objective To study the sodium channel α1-subunit (SCN1A) gene in a pair of monozygotic twins with borderland severe myoclonic epilepsy in infancy (SMEB) and its characteristic of clinical manifestations. Methods The clinical features of 2 monozygotic twins were summarized. All 26 exons of SCNIA genes were screened with denaturing high performance liquid chromatography (DHPLC), and direct sequence analysis was performed on those with abnormal elution peak. Results The proband and her sister showed typical clinical features of SMEB. The same heterozygous mutations on exon 26 which caused the related amino acid change were found among them (c. 5348C > T, A1783E). Conclusion Monozygotic twins with similar clinical phenotype of SMEB have same SCN1A gene mutation.

Mosaic SCN1A mutation in a family with partial epilepsy with febrile seizures plus / 中华神经科杂志

Objective To study the SCN1A gene in a family with partial epilepsy with febrile seizures plus ( PEFS+ ) and its characteristics of inheritance. Methods The clinical features of the 2 patients and their father were summarized. All 26 exons of SCN1A gene were screened with denaturing high performance liquid chromatography (DHPLC), and direct sequence analysis was pedormed on those with abnormal elution peak. Pyrosequencing was subsequently performed in those without abnormality in direct sequence analysis. Results The proband and his sister had the phenotype of PEFS+ . The same heterozygous mutations (AS768G) on exon 26 which caused the related amino acid change (Q1923R) were found among them. Their father had frequent febrile seizures (FS) in childhood, and seizures stopped spontaneously. No abnormality was found in direct sequence but mosaic mutation in the same site was discovered with pyrosequencing (mutation quantity was 25% ). Conclusions The mutatin of SCN1A could cause partial epilepsy. PEFS+ could be inherited, the relatives carrying the affected gene may have mild clinical symptoms, possibly resulting from the low concentration of the mutated gene due to mosaic mutation.

Comparison of Behavioral and Histological Changes between Pilocarpine-Induced Temporal Epilepsy Model and Pentylenetetrazole Kindling Absence Model in Rats / 中国康复理论与实践

@#ObjectiveTo investigate and compare the behavioral changes, neuron loss of hippocampus and mossy fiber sprouting between pilocarpine-induced status epilepticus (SE) model and pentylenetetrazole (PTZ) kindling model in rats.MethodsAfter two different epilepsy models were made, Vedio was adopted to observe the behavioral changes. Nissl staining and Neo-timms' staining were separately used to observe and compare the neuron loss of hippocampus and mossy fiber sprouting in the dentate gyrus (DG) at different time points during epileptogenisis.ResultsNo recurrent spontaneous seizure, no neuron loss and no mossy fiber sprouting were found in PTZ kindling model; whereas obvious neuron loss was found in CA1, CA3 of hippocampus and hilus of DG, and mossy fiber sprouting were found in pilocarpine model in parallel with recurrent spontaneous seizures. ConclusionPTZ kindling model resembles absence epilepsy in human, while pilocarpine-induced status epilepticus model resembles chronic temporal epilepsy in human. Neuron loss and mossy fiber sprouting may play an important role in epileptogenisis. Pilocarpine-induced epilepsy model can be regarded as an ideal chronic temporal epilepsy model.

Teaching epilepsy according to the international classification of epilepsy and epilepsy syndrome in different level students / 中华医学教育探索杂志

In order to improve the quality of epilepsy teaching,the appropriate version of the international classification of epilepsy and epileptic syndrome were selected to teach in the different level students by the way of PBL and clinical case analysis.The clinical thoughts and enthusiasm were improved.The classification of epilepsy could be grasped and easily used in their clinical work.

Functional evaluation of hypertensive cerebrovascular injury by critical closing pressure / 中国组织工程研究

BACKGROUND: Critical closing pressure (CCP) is recently thought to play a key role in cerebral blood flow autoregulation as an effective downstream pressure of cerebral circulation and can objectively reflect the cerebrovascular tone, namely the vascular smooth muscle contraction and diastole, which is subjected to dynamic modulation.OBJECTIVE: To dynamically assess the hypertension-induced damage of the contraction function of cerebral microvascular smooth muscles and its correlation with morphological changes based on CCP evaluation.DESIGN: Randomized controlled experiment.SETTING: Institute of Neural Science of Second Hospital Affiliated to Guangzhou Medical College and Department of Neurology, First Hospital Affiliated to Sun Yet-san University.MATERIALS: The experiment was carried out at the Laboratory of Physiological Science of Sun Yet-san University between July 2002 and August 2003. Totally 160 health male SD rats were randomized into control group and hypertension group with 80 rats in each group. METHODS: Stroke-prone renovas cular hyp ortonsive rats were established in rats of the hypertension group by bilateral renal artery occlusion with two clips. The rats in the control group were not subjected to the occlusion with other treatments identical to those of the hypertension group. At the time points of 2, 4, 6, 8, 10, 12, 14 and 16 weeks after operation, respectively, 10 rats were randomly selected from each of the two groups for determination of arterial pressure and CCP. After the measurements the frontal-parietal lobe was obtained from the anaesthetized rats and cut into slices for quantitative analysis of the morphological changes in cerebral microvessels.different postoperative time points.mean arterial pressure in hypertension group obviously increased from the 6th postoperative week with significant difference from that of the control after operation to a level significantly higher than that of the control group at postoperative 14 and 16 weeks [(63.75±7.43) vs (37.28±3.68) mm Hg and (67.37±15.57) vs (38.39t7.41) mm Hg, respectively, P ＜ 0.05].significance from that of the control group at the 8th postoperative week (Paverage arterial pressure and cerebral arteriole tunica media (r=0.906 93,0.811 36, respectively, P ＜ 0.05). The changes in CCP was more obvious in the early and advanced stages of blood pressure elevation, but not so manifest during obvious blood pressure increment, displaying an inverted S-shaped curve of changes (R2=0.996 2, P ＜ 0.05).CONCLUSION: Contraction of the cerebrovascular smooth muscles is enhanced with the dynamic increment of arterial pressure after the development of hypertension. Vascular tone increase is more manifest during the early and advanced stages of hypertension.