Sequencing reveals mutation behind rare brain disorder

04/29/2014 | Reuters

A single genetic mutation might be responsible for a brain disorder that has affected families in Turkey for centuries, two different research teams report in the journal Cell. Scientists used exome sequencing technology to identify the genetic variant, CLP1, that causes babies to be born with small malformed brains, become increasingly prone to seizures and develop progressive muscle weakness. The findings could expand insight into amyotrophic lateral sclerosis and other common neurodegenerative disorders, researchers said.

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