NEUROGLYCOPENIA--GENOTYPE/PHENOTYPE CORRELATION

描述：本提案的目标是系统地研究 神经性低血糖症患者队列，以确定是否存在表型 与GLUT-1基因中特定缺陷的相关性， 已发现在5个基因组中存在点突变或无义突变， 目前有17名患者此外，GLUT-1核型重排具有 在两个病人身上发现的。这些发现表明， GLUT-1活性的丧失与表型的发生有关。的 第一个目标是对现有患者进行基因型分析 和新病人，因为他们成为可用的速度约 4/年目标2的重点将是对 现有和新患者的表型。目标3是开发GLUT-1 缺陷小鼠通过同源重组，并进行 神经病理学分析。

DESCRIPTION: The goal of this proposal are to systematically study a cohort of neuroglycopenia patients to determine if there is a phenotypic correlation with specific defects in the GLUT-1 gene, a glucose transported that has been found to have point or nonsense mutations in 5 or 17 patients so far. In addition, GLUT-1 karyotypic rearrangements have found in two patients. These findings indicate that mutations which result in a loss of GLUT-1 activity are linked to the onset of the phenotype. The first Aim will be carry out genotypic analysis on the existing patients and on new patients as they become available at a rate of approximately 4/year. The focus of Aim 2 will be an extensive characterization of the phenotype of existing and new patients. Aim 3 will be to develop GLUT-1 deficient mice by homologous recombination and to carry out a neuropathological analysis of these animals.