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Title: Catastrophic Epilepsy Caused by Defect in One Gene Category: Health News Created: 7/9/2009 7:00:00 AM Last Editorial Review: 7/9/2009
Washington, July 8 : Researchers at Baylor College of Medicine have found a mutation in a single gene to be responsible for catastrophic epilepsy - characterized by severe muscle spasms, persistent seizures, mental retardation and sometimes autism.
Mouse study led to discovery of mutation and could advance treatments.
Catastrophic epilepsy – characterized by severe muscle spasms, persistent seizures, mental retardation and sometimes autism – results from a mutation in a single gene, said Baylor College of Medicine (www.bcm.edu) researchers in a report that appears in the current issue of the Journal of Neuroscience.The BCM department of neurology team replicated the defect in mice, developing a mouse model ...
Catastrophic epilepsy - characterized by severe muscle spasms, persistent seizures, mental retardation and sometimes autism - results from a mutation in a single gene, said Baylor College of Medicine researchers in a report that appears in the current issue of the Journal of Neuroscience.
A mutation in a single gene causes catastrophic epilepsy, U.S. scientists say. And that finding, they say, could lead to treatments or a cure for the disorder.
Catastrophic epilepsy -- characterized by severe muscle spasms, persistent seizures, mental retardation and sometimes autism -- results from a mutation in a single gene, researchers report.
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