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Tracy Hampton, PhD

JAMA. 2008;300(1):33.

	Since this article does not have an abstract, we have provided the first 150 words of the full text and any section headings.

New findings point to a genetic cause for childhood absence epilepsy, an inherited disorder that accounts for 10% to 12% of epilepsy in children younger than 16 years (Tanaka M et al. Am J Hum Genet. 2008;82[6]:1249-1261). The condition is associated with frequent seizures with impaired consciousness that leaves a child unresponsive for up to 10 seconds at a time. Several medications are effective in controlling the majority of these absence seizures, which mysteriously disappear in adulthood.

Investigators led by scientists at the David Geffen School of Medicine at the University of California in Los Angeles studied the DNA of 48 patients with the condition and discovered that 4 had a genetic mutation occurring in the receptor for the GABA neurotransmitter, which inhibits the excitation of nerve cells in the brain. When this regulation is lost or reduced, seizures develop. The mutated gene also affected several . . . [Full Text of this Article]

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