Series Studys On The Epilepsy

Section I: T-amino butyric acid receptor subtype B (GABBR) genes and idiopathic generalized epilepsyObjective:To investigate the relationship betweenγ-aminobutyric acid (GABA) receptor subtype B (GABBR) genes and idiopathic generalized epilepsy(IGE).Methods 46 patients with IGE from Shandong Provincial Hospital and affiliated hospital of Shandong University, and 50 controls from Shandong Provincial Hospital. Three single nucleotide polymorphisms (SNPs) rs 3025627, rs3025628, and rs29220 were used as genetic markers. PCR and agarose gel electrophoresis were used. Then the frequencies of SNPs were analyzed.Results The allele of TT frequencies of rs3025627 is significantly higher in IGE patients than those in normal controls (0.362 vs0.245, p<0.01)) and the AT type of rs3025627 is significantly higher in normal controls than those in IGE patients (0.354 vs0.447, p<0.05). the allele frequencies of rs3025628 and rs29220 were no statistic differences between the two groups.Conclusion The SNP rs3025627 is associated with IGE. SectionⅡ: The Effects of Sodium Valproate on Blood Lipids and Thyroid Gland Function in Adult EpilepsyBackground:Epilepsy is one of the most common diseases in neurologic field. P atients with epilepsy often require continous medications for years. There is concerned about long-term sequelae of antiepilepsy drugs (AEDs), such as drug-induced changes in the lipid profiles and thyroid gland funtion. Till now, there is little eveidence of the variety of serum lipid and thyroid gland funtion research in adult patients with epilepsy. So we try to investigate the effects of epilepsy and AEDs on serum lipid profiles and thyroid gland funtion in adult patients and discuss the mechanism.Objective:To explore the effcts and possible mechanism of long term VPA therapy on blood lipids and thyroid gland funtion in adult epilepsy.Methods Prospectively analyzed blood lipids (TC, LDL-C, HDL-C, TG, ApoA1 and ApoB) and fasting blood sugar, insulin, HOMA as well as thyroid gland function (T3, T4, FT3, FT4 and TSH) of 54 adult patients with epilepsy before and after therapy with VPA for 6 months.Results TG, TC and LDL-C were significanctly elevated in patients having had VPA for six months compared with those before taking VPA(p<0.05). there was no correlation with changes of blood lipids and the patients' age, gender seizure type or drug dosage. Fasting insulin increased in patients after VPA therapy for six months, but didn't reach statistical significance. At the same time HOMA did not change significantly. FT4 decreased significantly, but TSH increased after VPA therapy.Conclusions 1. long term therapy with VPA can interfere the blood lipid metabolism in adult epilepsy.2. VPA may interfere blood lipid metabolism through affection thyroid functions.3. We should pay attention to blood lipids and thyroid function of epilepsy patients on long term VPA therapy. SectionⅢ: Gene mutation screening of SCN1B and SCN1A in generalized epilepsy with febrile seizures familiesBackground:Generalized epilepsy with febrile seizures plus (GEFS+) is a common epileptic syndrome diagnosed according to the family can. It has significant phenotypes heterogeneity. GEFS+belongs to ion channel disease. Many studies show that sodium channel abnormality is always resulted from the abnormal expression of genes, which then can lead to GEFS+, especially the SCN1B and SCN1A.Objective:to study the relationship between gene mutation of SCN1B, SCN1A and generalized epilepsy with febrile seizures plus.bMethods:Genomic DNA was extracted from peripheral blood lymphocytes of the proband and other available members in the GEFS+family. The coding regions of the all exons of SCN1B and five exons of SCN1A of gene were screened for mutations using polymerase chain reaction (PCR) and direct DNA sequencing.Results:The phenotypes included FS, FS+, FS+with absence seizure, FS+ with myoclonic seizure, FS+with focal seizure. The incidence between males and females had no significance. Most of the parents were affected. Or at least 2 relatives were affected. It is consistant with the characteristics of autosomal dominant inheritance. All exons of the SCN1B and 5 exons of the SCN1A had no affirmative gene mutation in the 6 probands in contrast to genome DNA.Conclusions:GEFS+is a common epileptic syndrome, with significant phenotypes heterogeneity. All exons of the SCN1B and 5 exons of the SCN1A had no affirmative gene mutation in the 6 probands in contrast to genome DNA.