| Literature DB >> 21962874 |
Roser Pons1, Ester Cuenca-León, Elena Miravet, Montse Pons, Athina Xaidara, Sotiris Youroukos, Alfons Macaya.
Abstract
Paroxysmal non-kinesigenic dyskinesia (PNKD) is an autosomal dominant disorder characterized by attacks of dystonic or choreathetotic movements precipitated by stress, fatigue, coffee, alcohol or menstruation. In this report we present two families with PNKD of Southern European origin carrying a PNKD recurrent mutation. Incomplete penetrance and intrafamilial variability was detected in both families. Treatment with valproic acid and levetiracetam provided favorable response.Entities:
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Year: 2011 PMID： 21962874 DOI： 10.1016/j.ejpn.2011.09.008
Source DB: PubMed Journal: Eur J Paediatr Neurol ISSN： 1090-3798 Impact factor: 3.140