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OBJECTIVE Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder. About 80% - 90% of SMA patients are missing both copies of SMN1, and 5% - 10% of patients are compound heterozygotes. In the present study, we aimed to analyze survival motor neuron 1 (SMN1) gene mutation in three patients with spinal muscular atrophy and their(More)
OBJECTIVE To find out the rate of comorbidities of depression, anxiety disorder and attention deficit hyperactivity disorder (ADHD) symptoms in children with epilepsy and to analyze the relevant affecting factors and impacts on quality of life. METHOD Totally 142 children with various types of epilepsy underwent neuropsychological assessment with the(More)
OBJECTIVE To study the cognitive function, its correlation with and the impact on quality of life in epileptic children aged 6-13 years in regular school. METHOD Cognitive function of 172 children with various types of epilepsy were measured using a computerized neuropsychological test battery including six items. Their scores across the(More)
OBJECTIVE To identify the point mutations in survival motor neuron gene 1 SMN1 gene and confirm the existence of compound heterozygous mutations in Chinese patients with spinal muscular atrophy (SMA). METHODS Three unrelated patients were diagnosed and clinically typed according to the criteria of proximal SMA established by the International SMA(More)
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