Characteristics of infantile convulsions and choreoathetosis syndrome caused by PRRT2 mutation  

作　　者：Yaxian Deng Juanyu Xu Chunmei Yao Lei Wang Xiaohuan Dong Chengsong Zhao 

机构地区：[1]Department of Pediatrics,Beijing Tiantan Hospital,Capital Medical University,Beijing,China [2]Department of Outpatient,Beijing Children’s Hospital,Capital Medical University,National Center for Children’s Health,Beijing,China

出　　处：《Pediatric Investigation》2022年第1期11-15,共5页儿科学研究（英文）

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.Lowdose carbamazepine monotherapy is effective and well-tolerated in children.

关 键 词：ICCA Paroxysmal kinesigenic dyskinesia PRRT2 TREATMENT 

分 类 号：R741[医药卫生—神经病学与精神病学]