典型文献
Characteristics of infantile convulsions and choreoathetosis syndrome caused by
PRRT2 mutation
文献摘要：
Importance::Infantile convulsions and choreoathetosis (ICCA) is a rare neurological disorder. Many affected patients are either misdiagnosed or prescribed multiple antiepileptic drugs.Objective::To explore therapeutic drug treatments and dosages for ICCA in children.Methods::Detailed clinical features (e.g., past medical history and family history), genetic features, and treatment outcomes were collected from the records of six patients with ICCA.Results::Mean age at paroxysmal kinesigenic dyskinesia (PKD) onset was 8 years 8 months (range, 3-12 years); the clinical presentation was characterized by daily short paroxysmal episodes of dystonia/dyskinesia. All patients had infantile convulsions at less than 1 year of age, and the mean onset age was 5.5 months (range, 4-7 months). Two patients had a family history of ICCA, PKD, or benign familial infantile epilepsy. Whole exome sequencing identified the c.649-650insC mutation in
PRRT2 in six patients; three mutations were inherited and three were
de novo. All patients were prescribed low-dose carbamazepine and showed dramatic improvement with the complete disappearance of dyskinetic episodes after 3 days. They attended follow-up for 5-17 months and were attack-free until the final follow-up.
Interpretation::PRRT2 mutations are the primary cause of ICCA. Low-dose carbamazepine monotherapy is effective and well-tolerated in children.
文献关键词：
ICCA;Paroxysmal kinesigenic dyskinesia;PRRT2;Treatment
中图分类号：
作者姓名：
Deng Yaxian;Xu Juanyu;Yao Chunmei;Wang Lei;Dong Xiaohuan;Zhao Chengsong
作者机构：
Department of Pediatrics, Beijing Tiantan Hospital, Capital Medical University, Beijing, China;Department of Outpatient, Beijing Children’s Hospital, Capital Medical University, National Center for Children’s Health, Beijing, China
文献出处：
引用格式：
[1]Deng Yaxian;Xu Juanyu;Yao Chunmei;Wang Lei;Dong Xiaohuan;Zhao Chengsong-.Characteristics of infantile convulsions and choreoathetosis syndrome caused by
PRRT2 mutation
)[J].儿科学研究（英文）,2022(01):11-15
A类：
convulsions,choreoathetosis,Infantile,650insC,dyskinetic
B类：
Characteristics,infantile,syndrome,caused,by,PRRT2,mutation
,Importance,ICCA,rare,neurological,disorder,Many,affected,patients,either,misdiagnosed,prescribed,multiple,antiepileptic,drugs,Objective,To,explore,therapeutic,treatments,dosages,children,Methods,Detailed,clinical,features,past,medical,history,family,genetic,outcomes,were,collected,from,records,six,Results,Mean,paroxysmal,kinesigenic,dyskinesia,PKD,onset,was,years,months,range,presentation,characterized,daily,short,episodes,dystonia,All,had,less,than,mean,Two,benign,familial,epilepsy,Whole,exome,sequencing,identified,three,mutations,inherited,novo,dose,carbamazepine,showed,dramatic,improvement,complete,disappearance,after,days,They,attended,follow,up,attack,free,until,final,Interpretation,primary,Low,monotherapy,effective,well,tolerated,Paroxysmal,Treatment
AB值：
0.52053
相似文献
机标中图分类号，由域田数据科技根据网络公开资料自动分析生成，仅供学习研究参考。
