Novel truncating and missense mutations of the KCC3 gene associated with Andermann syndrome
Abstract
Background: Andermann syndrome (OMIM 218000) is an autosomal recessive motor-sensory neuropathy associated with developmental and neurodegenerative defects. The cerebral MRI reveals a variable degree of agenesis of the corpus callosum. Recently, truncating mutations of the KCC3 gene (also known as SLC12A6) have been associated with Andermann syndrome. Methods: The authors assessed clinically and genetically three...
Paper Details
Title
Novel truncating and missense mutations of the KCC3 gene associated with Andermann syndrome
Published Date
Apr 11, 2006
Journal
Volume
66
Issue
7
Pages
1044 - 1048
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