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• W2096093829 abstract "<h3>Background</h3> Paroxysmal dyskinesias (PDs), a clinically and genetically heterogeneous group of episodic movement disorders, include kinesigenic PD (PKD), exercise-induced PD (PED) and non-kinesigenic PD (PNKD). These disorders are all transmitted as autosomal dominant traits with incomplete penetrance. Several PD-related genetic disorders, including PKD and familial infantile convulsions with paroxysmal choreoathetosis (ICCA), mapped to the same region on chromosome 16. Independent genetic studies have recently revealed that PKD can be caused by loss-of-function mutations in the proline-rich transmembrane protein 2 gene (<i>PRRT2</i>). We tested the hypothesis that other forms of PDs are also due to <i>PRRT2</i> mutations. <h3>Methods/results</h3> The whole genomic region of <i>PRRT2</i> was sequenced in six Han Chinese families and 15 sporadic cases of PD-related phenotypes. The previously reported mutation, c.649dupC (p.R217Pfs*7), was found in two families with PKD, one family with ICCA, one family with PNKD-like phenotype, and two sporadic cases with PED. In an additional ICCA family, a novel frameshift mutation, c.904dupG (p.D302Gfs*38), was identified. A missense mutation, c.913G→A (p.G305R), and a synonymous substitution, c.1011C→T (p.G337G), were also detected in two sporadic PKD cases. <h3>Conclusion</h3> This study shows that PKD, ICCA and some other PD-related phenotypes are part of the same phenotypic spectrum, caused by mutations in <i>PRRT2</i>. This underscores the complexity of the phenotypic consequences of <i>PRRT2</i> mutations." @default.
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• W2096093829 date "2011-12-29" @default.
• W2096093829 modified "2023-10-18" @default.
• W2096093829 title "Mutations in<i>PRRT2</i>result in paroxysmal dyskinesias with marked variability in clinical expression" @default.
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• W2096093829 doi "https://doi.org/10.1136/jmedgenet-2011-100653" @default.
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