Recurrent Paroxysmal Torticollis as a Presenting Feature of Stress-Induced Childhood-Onset Neurodegeneration with Variable Ataxia and Seizures (CONDSIAS).
作者信息
Modage Anita, Gaonkar Virendra, Pereira Myla Isha
机构信息
Department of Pediatrics, Healthway Hospitals Pvt Ltd., Old Goa, Goa, 403402, India.
Department of Research, Healthway Hospitals Pvt Ltd., Old Goa, Goa, 403402, India.
出版信息
Indian Pediatr. 2025 Jun;62(6):468-469. doi: 10.1007/s13312-025-00083-9. Epub 2025 May 14.
PMID:40366626
Abstract
摘要
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本文引用的文献
1
Stress-induced Childhood Onset Neurodegeneration with Ataxia and Seizures (CONDSIAS) Presenting with Torticollis Attacks: Phenotypic Variability of the Same Mutation in Two Turkish Patients.伴有斜颈发作的应激诱导型儿童期起病的共济失调和癫痫性神经退行性变（CONDSIAS）：两名土耳其患者中相同突变的表型变异性
Ann Indian Acad Neurol. 2022 Mar-Apr;25(2):292-294. doi: 10.4103/aian.aian_314_21. Epub 2021 Nov 10.
2
Child-Onset Cerebellar Ataxia Caused by Two Compound Heterozygous Variants in ADPRS Gene: A Case Report.ADPRS基因两个复合杂合变异导致的儿童期小脑共济失调：一例报告
Front Genet. 2022 May 19;12:788702. doi: 10.3389/fgene.2021.788702. eCollection 2021.
3
Case Report: Stress-Induced Childhood-Onset Neurodegeneration With Ataxia-Seizures Syndrome Caused by a Novel Compound Heterozygous Mutation in .病例报告：由一种新型复合杂合突变引起的应激诱导的儿童期起病的神经退行性共济失调-癫痫综合征
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4
Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome.编码ADP-核糖水解酶3的ADPRHL2基因双等位基因突变导致一种退行性小儿应激性癫痫性共济失调综合征。
Am J Hum Genet. 2018 Sep 6;103(3):431-439. doi: 10.1016/j.ajhg.2018.07.010. Epub 2018 Aug 9.
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