Article
Familial PRRT2 mutation with heterogeneous paroxysmal disorders including paroxysmal torticollis and hemiplegic migraine.
Developmental medicine and child neurology - 1 Oct 2012
Dale Russell C, Gardiner Alice, Antony Jayne, Houlden Henry
Abstract excerpt
PRRT2 is the gene recently associated with paroxysmal kinesigenic dyskinesia (PKD), benign familial infantile epilepsy, and choreoathetosis infantile convulsions. We report four family members with PRRT2 mutations who had heterogeneous paroxysmal disorders. The index patient had transient infanti...
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