The interferon-inducible transmembrane protein (IFITM) family inhibits a growing number of
pathogenic viruses, among them influenza A virus, dengue virus, hepatitis C virus, and …

Recent advances in molecular genetics have translated into the increasing utilisation of
genetic testing in the routine clinical practice of neurologists. There has been a steady …

Dystonia is a common movement disorder seen by neurologists in clinic. Genetic forms of
the disease are important to recognize clinically and also provide valuable information about …

In the past year, mutations in the PRRT2 gene have been identified in patients with
paroxysmal kinesigenic dyskinesia and other paroxysmal disorders. We conducted a review …

The clinical evaluation of a patient with dystonia is a stepwise process, beginning with
classification of the phenomenology of the movement disorder (s), then formulation of the …

Novel technologies and an unprecedented level of international collaboration have resulted
in identification of novel genes for monogenic and complex genetic epilepsies as well as risk …

Mutations in the gene PRRT2 encoding proline-rich transmembrane protein 2 have recently
been identified as the cause of three clinical entities: benign familial infantile epilepsy …

Although all forms of dystonia share the core clinical features of involuntary dystonic
dyskinesia, there is not only marked phenotypic but also etiologic heterogeneity. Isolated …

Recent studies reported mutations in the gene encoding the proline-rich transmembrane
protein 2 (PRRT2) to be causative for paroxysmal kinesigenic dyskinesia (PKD), PKD …

PRRT2 mutation correlated with phenotype of paroxysmal kinesigenic dyskinesia and drug
response | Neurology Skip to main content Skip to main content AAN.com AAN Publications …