Novel truncating and missense mutations of the KCC3 gene associated with Andermann syndrome

DOI zum Zitieren dieses Dokuments:: 10.5283/epub.1213

Uyanik, G. ; Elcioglu, N. ; Penzien, J. ; Gross, C. ; Yilmaz, Y. ; Olmez, A. ; Demir, E. ; Wahl, D. ; Scheglmann, K. ; Winner, B. ; Bogdahn, U. ; Topaloglu, H. ; Hehr, U. ; Winkler, J.

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Veröffentlichungsdatum dieses Volltextes: 05 Aug 2009 13:25

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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 ...