典型文献
Chinese patients with p.Arg756 mutations of
ATP1A3: Clinical manifestations, treatment, and follow-up
文献摘要：
Importance::The phenotypes of
ATP1A3 gene mutations are diverse. Relapsing encephalopathy with cerebellar ataxia and fever-induced paroxysmal weakness and encephalopathy (FIPWE) are considered non-classical phenotypes caused by p.Arg756 mutations of
ATP1A3.
Objective::To summarize the clinical manifestations, treatment, and follow-up of Chinese patients with p.Arg756 mutations of
ATP1A3.
Methods::We analyzed the clinical features, treatment, and genotypes of eight children with p.Arg756 mutations of
ATP1A3 who were treated in Beijing Children’s Hospital from January 2014 to December 2019.
Results::Eight patients (six boys and two girls) were included; seven had been misdiagnosed with encephalitis. The age of onset ranged from 0.8 to 4.5 years. All patients had encephalopathy and had at least one episode of FIPWE. Cerebellar ataxia was present in nine episodes. Reversible splenial lesions of the corpus callosum were found in two patients in the acute phase. Three types of heterozygous
ATP1A3 mutations were found: c.2267G > T (p.R756L) (patient 3 [P3]), c.2266C > T (p.R756C) (P2 and P4), and c.2267G > A (p.R756H) (P1, P5, P6, P7, and P8). Six mutations were
de novo; two mutations were inherited. Both patients with p.R756C and one patient (P7) with p.R756H had four episodes of severe ataxia as the main manifestations. However, in the other three episodes, limb weakness was more prominent than ataxia. P5 with p.R756H exhibited overlap with FIPWE and rapid-onset dystonia-parkinsonism.
Interpretation::Acute encephalopathy followed by febrile disease was characteristic of the disease in patients with p.Arg756 mutations of
ATP1A3. However, the weakness and ataxia were variable. Phenotypic crossover and overlap were observed among these patients.
文献关键词：
ATP1A3;Mutation;Encephalopathy;Fever
中图分类号：
作者姓名：
Zhang Weihua;Li Jiuwei;Zhuo Xiuwei;Zhou Ji;Feng Weixing;Gong Shuai;Ren Xiaotun;Ding Changhong;Han Tongli;Fang Fang
作者机构：
Department of Neurology, Beijing Children’s Hospital, Capital Medical University, National Center for Children’s Health, Beijing, China
文献出处：
引用格式：
[1]Zhang Weihua;Li Jiuwei;Zhuo Xiuwei;Zhou Ji;Feng Weixing;Gong Shuai;Ren Xiaotun;Ding Changhong;Han Tongli;Fang Fang-.Chinese patients with p.Arg756 mutations of
ATP1A3: Clinical manifestations, treatment, and follow-up
)[J].儿科学研究（英文）,2022(01):5-10
A类：
Arg756,ATP1A3,up
,Relapsing,FIPWE,Cerebellar,2267G,R756L,2266C,R756C,R756H
B类：
Chinese,patients,mutations,Clinical,manifestations,treatment,Importance,phenotypes,gene,are,diverse,encephalopathy,cerebellar,ataxia,fever,induced,paroxysmal,weakness,considered,classical,caused,by,Objective,To,summarize,clinical,Methods,We,analyzed,features,genotypes,eight,children,who,were,treated,Beijing,Children,Hospital,from,January,December,Results,Eight,six,boys,two,girls,included,seven,had,been,misdiagnosed,encephalitis,age,onset,ranged,years,All,least,one,was,present,nine,episodes,Reversible,splenial,lesions,corpus,callosum,found,acute,phase,Three,heterozygous,P3,P2,P4,P5,P6,P7,P8,Six,novo,inherited,Both,four,severe,main,However,other,three,limb,more,prominent,than,exhibited,overlap,rapid,dystonia,parkinsonism,Interpretation,Acute,followed,febrile,disease,characteristic,variable,Phenotypic,crossover,observed,among,these,Mutation,Encephalopathy,Fever
AB值：
0.450397
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