A novel KCNA1 mutation associated with global delay and persistent cerebellar dysfunction. [electronic resource]
- Movement disorders : official journal of the Movement Disorder Society Apr 2009
- 778-82 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
1531-8257
10.1002/mds.22467 doi
Adult Animals CHO Cells Cerebellar Diseases--genetics Child, Preschool Cricetinae Cricetulus DNA Mutational Analysis--methods Female Genetic Predisposition to Disease Humans Kv1.1 Potassium Channel--genetics Leucine--genetics Magnetic Resonance Imaging--methods Male Membrane Potentials--genetics Mutation--genetics Transfection--methods Valine--genetics