Journal
JOURNAL OF NEUROLOGY
Volume 261, Issue 5, Pages 951-953Publisher
SPRINGER HEIDELBERG
DOI: 10.1007/s00415-014-7305-z
Keywords
PRRT2; Mutations; Paroxysmal kinesigenic dyskinesia; Infantile convulsions with choreoathetosis syndrome; Seizures
Categories
Funding
- National Natural Science Foundation of China [81100969]
- PUMCH fund
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Mutations in PRRT2 have recently been identified as the major cause of autosomal dominant benign familial infantile epilepsy (BFIE), infantile convulsions with choreoathetosis syndrome (ICCA), and paroxysmal kinesigenic dyskinesia (PKD). Other paroxysmal disorders like febrile seizures, migraine, paroxysmal exercise-induced dyskinesia, and paroxysmal non-kinesigenic dyskinesia have also been shown to be associated with this gene. We re-evaluated PRRT2 mutations and genetic-clinical correlations in additional cases with PKD/ICCA and other paroxysmal disorders. Two novel mutations in PRRT2 were revealed in PKD/ICCA cases, while no mutations were detected in other diseases, which suggests BFIE and PKD are still core phenotypes of PRRT2-related spectrum disorders.
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