Novel Variants in the Gene Associated With Chinese Sporadic Amyotrophic Lateral Sclerosis With Slow Progression.

Background And Purpose: Mutations in the gene have been linked to amyotrophic lateral sclerosis (ALS) type 11 in Caucasian populations. The purpose of this study was to identify variants in a cohort of 15 familial ALS (FALS) indexes and 275 sporadic ALS (SALS) patients of Han Chinese origin.

Methods: All 23 exons of were sequenced using targeted next-generation sequencing.

Seizure-induced 5-HT release and chronic impairment of serotonergic function in rats.

We analyzed the dynamic concentration change of serotonin (5-HT) and its main metabolite 5-hydroxyindoleacetic acid (5-HIAA) within the epileptic hippocampus in rats. Seizure was induced by systemic injection of pilocarpine (320mg/kg, i.p.

[Analysis of CLCN1 gene mutations in 2 patients with myotonia congenita].

Objective: To investigate chloride channel 1 (CLCN1) gene mutation and clinical features of 2 Chinese patients with myotonia congenita.

Methods: Clinical data of a patient from a family affected with myotonia congenita in addition with a sporadic patient from Fujian province were analyzed. Exons of CLCN1 gene were amplified and sequenced.