TY -的T1 - < em > PRRT2 < / em >表型和外显率的阵发性kinesigenic运动障碍和婴儿痉挛摩根富林明——神经学乔-神经病学SP - 777 LP - 784 - 10.1212 / WNL。首页0 b013e3182661fe3六世- 79 - 8 AU - Rianne van Vliet盟Guido Breedveld盟Johanneke de Rijk-van Andel AU - Eva Brilstra盟Nienke Verbeek AU - Corien Verschuuren-Bemelmans AU - Maartje福音盟约翰尼Samijn盟Laar Ingrid van de - Karin Diderich盟盟-本Oostra盟Vincenzo Bonifati盟安Maat-Kievit Y1 - 2012/08/21 UR - //www.ez-admanager.com/content/79/8/777.abstract N2 -目的:描述的表型和外显率阵发性ki首页nesigenic运动障碍(PKD)、不自主运动为特征的运动障碍袭击发生后突然动作,小儿惊厥和舞蹈手足徐动症(ICCA)综合症和良性家族性小儿惊厥(BFIC),由PRRT2突变引起的。方法:我们进行了临床和遗传学研究与ICCA 3大家庭,与PKD 2更小的家庭,并与零星PKD 4个人。偏头痛也出现在几个人。结果:我们发现3种不同PRRT2的杂合突变:复发性p。Arg217Profs * 8的突变,先前报道,被确认与ICCA 2家庭,2有PKD的家庭,和一个人零星PKD;一个新颖的错义突变(p.Ser275Phe)中检测出与ICCA剩下的家庭;和一个小说删除突变(p.Arg217 *)被发现在一个个体零星PKD。在剩下的2个人零星PKD, PRRT2突变没有检测到。重要的是,PRRT2突变没有cosegregate与发热性惊厥或偏头痛。 The estimated penetrance of PRRT2 mutations was 61%, if only the PKD phenotype was considered; however, if infantile convulsions were also taken into account, the penetrance was nearly complete. Considering our findings and those reported in literature, 23 PRRT2 mutations explain ∼56% of the families analyzed. Conclusions: PRRT2 mutations are the major cause of PKD or ICCA, but they do not seem to be involved in the etiology of febrile convulsions and migraine. The identification of PRRT2 as a major gene for the PKD-ICCA-BFIC spectrum allows better disease classification, molecular confirmation of the clinical diagnosis, and genetic testing and counseling. BFIC=benign familial infantile convulsions; FC=febrile convulsion; ICCA=infantile convulsion and choreoathetosis; PKD=paroxysmal kinesigenic dyskinesia ER -