Novel PRRT2 mutations in paroxysmal dyskinesia patients with variant inheritance and phenotypes (pages 234–240)
X.-R. Liu, M. Wu, N. He, H. Meng, L. Wen, J.-L. Wang, M.-P. Zhang, W.-B. Li, X. Mao, J.-M. Qin, B.-M. Li, B. Tang, Y.-H. Deng, Y.-W. Shi, T. Su, Y.-H. Yi, B.-S. Tang and W.-P. Liao
Version of Record online: 21 DEC 2012 | DOI: 10.1111/gbb.12008
Seven PRRT2 mutations (including five novel mutations) in 15 cases (or families) with paroxysmal dyskinesias (PDs) and PDs-related phenotypes were detected, which extended the spectrum of PRRT2 mutations and provided the evidence that PRRT2 was the causative gene in most familial PDs. The heterogeneity in inheritance patterns of PRRT2 mutations, including autosomal recessive inheritance with compound heterozygous PRRT2 mutations, was identified. Variant phenotypes associated with PRRT2 mutations and EEG abnormalities were reported, including infantile non-convulsion seizures and nocturnal convulsions that were not reported previously
Ethanol induced CTA response varied as a function of age, strain and ethanol dose.