期刊
NEUROGENETICS
卷 14, 期 3-4, 页码 251-253出版社
SPRINGER
DOI: 10.1007/s10048-013-0376-7
关键词
Paroxysmal kinesigenic dyskinesia; PKD; PKD/IC; Infantile convulsions; 16p11.2 deletion syndrome; THAPBS; THAP1; PRRT2
Paroxysmal kinesigenic dyskinesia with infantile convulsions (PKD/IC) is caused by mutations in the gene PRRT2 located in 16p11.2. A deletion syndrome 16p11.2 is well established and is characterized by intellectual disability, speech delay, and autism. PKD/IC, however, is extremely rare in this syndrome. We describe a case of PKD/IC and 16p11.2 deletion syndrome and discuss modifiers of PRRT2 activity to explain the rare concurrence of both syndromes.
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