[Effect of carbamazepine and valproate on bone metabolism in children with epilepsy].

Objective: To assess bone health in epileptic children who have been treated with carbamazepine (CBZ) or valproate (VPA) by using quantitative ultrasound (QUS) and determining the biochemical indices of bone metabolism, and to provide a proposal to improve quality of life of epileptic children.

Methods: Ninety-two epileptic children who had been treated with CBZ or VPA for more than two years were evaluated for bone mineral density (BMD) at the mid-shaft tibia and the distal third of the radius. Biochemical indices of bone metabolism including urine deoxypyridinoline (DPD) and serum osteocalcin (OC), and daily calcium intake were also evaluated.

Correlation of ATP7B genotype with phenotype in Chinese patients with Wilson disease.

Aim: To determine the mutational characterization of P-type ATP7B gene and to explore the correlation of ATP7B genotype to phenotype in Chinese patients with Wilson disease (WD).

Methods: Seventy-five patients with WD from 72 no-kinship families, 44 males and 31 females, were enrolled in this study. The age of onset ranged from 4 to 39 years, <=18 years in 72 patients.

[Genotype and phenotype correlation in Chinese patients with Wilson's Disease].

Objective: To determine distribution and mutation pattern of type P ATP7B gene mutation and to explore genotype and phenotype correlation in patients with Wilson's disease (WD).

Methods: Sixty patients with WD from 57 no kinship families, 37 male and 23 female, were enrolled in this study. The age of onset ranged from 4.

[Analysis of haplotype-based haplotype relative risk and transmission disequilibrium test in childhood absence epilepsy].

Objective: Childhood absence epilepsy (CAE), a common form of idiopathic generalized epilepsy, accounts for 8% - 15% of all childhood epilepsies. A positive family history of epilepsy, a hereditary factor being one of the pathogeneses, is found in 15% - 44% of children with absence seizures. The phenotype of CAE is specific (including seizure forms and EEG), therefore it is suitable for genetic study.