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Series Studys on the Epilepsy

Author: SunXueDong
Tutor: ChiZhaoFu
School: Shandong University
Course: Neurology
Keywords: Idiopathic epilepsy γ- aminobutyric acid Single nucleotide polymorphisms Epilepsy Valproate Lipids Thyroid function Generalized epilepsy with febrile seizures plus SCN1B SCN1A Gene mutation
CLC: R742.1
Type: PhD thesis
Year: 2010
Downloads: 571
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Abstract


The first part of the γ-aminobutyric acid receptor gene polymorphism and idiopathic Epilepsy Objective: To investigate γ-aminobutyric acid (GABA) receptor gene polymorphism GABBR1 idiopathic epilepsy in rats. Methods from October 2004 to November 2006 at the Provincial Hospital, Shandong University Qilu hospital and idiopathic epilepsy 46 cases over the same period selected age, sex matched examination 50 cases as a control group, using PCR, agar sugar gel electrophoresis analysis of two sets of rs3025627. rs3025628 and rs29220 genotype frequency. Results idiopathic epilepsy rs3025627TT genotype frequency was significantly higher (0.362vs0.245, p lt; 0.01), rs3025627AT genotype frequencies lower than the control group (0.354 vs0.447, p lt; 0.05), two groups of difference was statistically significant. Rs3025628 and rs29220 genotype groups no significant difference. Conclusion rs3025627 genotype frequency changes may lead GABBR1 exon 7 in the pathogenesis of idiopathic epilepsy contributing causes. The second part of sodium valproate on lipid metabolism in adults with epilepsy and thyroid function affect Background: Epilepsy is a common neurological diseases, the incidence and prevalence is higher, once diagnosed, must be immediately treated. So far, antiepileptic drugs are still the primary means of treatment of epilepsy, but once you start taking medication, you must adhere to long-term medication until the full control of epilepsy. Therefore, epilepsy medication, is a long process, but long-term use of antiepileptic drugs may bring a lot of adverse reactions, abnormal blood lipids is an important one. Of cholesterol, low-density lipoprotein cholesterol, elevated lipoprotein (a), high density lipoprotein cholesterol lowering is caused by atherosclerosis, an important risk factor. Foreign present, for adult patients with epilepsy taking antiepileptic drugs induced lipid changes of different perspectives, China is currently the research is not much. Therefore, this study of adult patients with epilepsy to understand long-term use of antiepileptic drugs in blood, changes in thyroid function, and discuss possible mechanisms. Objective: To analyze sodium valproate (VPA) in patients with epilepsy lipids, glucose, insulin, thyroid function, and explore VPA on lipid metabolism mechanisms. Analyzed taking VPA monotherapy in adults with epilepsy, 54 patients before starting treatment and for 6 months after treatment, determination of total cholesterol (TC), triglyceride (TG), high density lipoprotein (HDL-C), low density lipoprotein (LDL-C), APOAI, ApOB and blood glucose, insulin (insulin), T4, T3, FT4, FT3 and TSH, and calculate HOMA-IR. Results patient group taking VPA6 months of TG, LDL-C and TC was significantly higher than before treatment (p lt; 0.05). Changes in serum lipids were associated with age, gender, seizure type and dosage no correlation. Case group serving VPA6 months compared with baseline fasting insulin increased, but did not reach statistical significance, HOMA also no significant difference. Taking VPA6 FT4 epilepsy months was significantly lower than before treatment (P lt; 0.05), and TSH was significantly higher than those without medication. Conclusions: 1. VPA long-term use in adults with epilepsy can interfere with lipid metabolism, increase the risk of atherosclerosis-related disease risks. 2.VPA interfere with lipid metabolism may influence thyroid hormone levels achieved. 3 should be monitored in patients using VPA lipids, and requires the patient attention to proper diet. The third part of the generalized epilepsy with febrile seizures plus SCN1B, SCN1A mutation screening Background: generalized epilepsy with febrile seizures plus (generalized epilepsy with febrile seizures plus, GEFS) is a diagnosis of the family as a whole epilepsy syndrome. It has significant phenotypic heterogeneity, GEFS belongs ion channel diseases, ion out of the cell by the voltage-gated and ligand-gated ion channel regulation, research shows that with GEFS sodium channel gene associated mainly SCN1B, SCN1A, respectively, by sodium channel β1 subunit and α1 subunit coding. Abnormal channel function and regulation is often the result of abnormal expression of genes, causing abnormal neuronal excitability, leading to seizures. Objective: To study the generalized epilepsy with febrile seizures plus SCN1B, SCN1A mutations in SCN1A GEFS explore SCN1B and the possible role. Methods: This study mainly through 6 GEFS pedigrees using polymerase chain reaction (PCR) products of DNA sequencing method GEFS pedigrees sodium channel β1 subunit encoded (SCN1B) gene (5 exons) and α1 Asia genes coding units (SCN1A) (As we only had limited funds SCN1A26 exons of 5) mutation screening. Results: At least two generations of pedigree disease, six families of 96 members, 60 males, 36 females. 42 cases of patients with epilepsy, including 24 cases of phenotypes consistent with GEFS, 15 males and 9 females. Prevalence between men and women was not statistically significant, the majority of patients with one or both parents of the patient, the parents of individual patients without the disease, but its close relatives, at least two or more patients. FS12 case, FS 8 例, FS with absence seizures one case, FS with myoclonic seizures one case, FS focal seizure two cases. Probands sequencing results compared with genome sequences and found no positive mutations. Conclusion: GEFS have a significant phenotypic heterogeneity, consistent with autosomal dominant inheritance features. Found no positive SCN1B and SCN1A mutations.

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CLC: > Medicine, health > Neurology and psychiatry > Neurology > Brain diseases > Epilepsy
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