A novel KCNA1 mutation associated with global delay and persistent cerebellar dysfunction.

Demos, Michelle K

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