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Beyond seizures: SCN8A heterozygous mutation presenting with epilepsy and paroxysmal dyskinesia.

作者信息

Zhang Xinjie, Yu Tao

机构信息

Department of Pediatric Neurosurgery, West China Second University Hospital, Sichuan University; Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Chengdu, Sichuan, China.

Department of Pediatrics, West China Second University Hospital; Key Laboratory of Obstetric & Gynecologic and Pediatric Diseases and Birth Defects of Ministry of Education, Sichuan University, Chengdu, China.

出版信息

Ann Med Surg (Lond). 2024 Dec 12;87(2):438-440. doi: 10.1097/MS9.0000000000002978. eCollection 2025 Feb.

DOI:10.1097/MS9.0000000000002978
PMID:40110302
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11918743/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e207/11918743/0e9feecc411e/ms9-87-0438-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e207/11918743/0e9feecc411e/ms9-87-0438-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e207/11918743/0e9feecc411e/ms9-87-0438-g001.jpg

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Beyond seizures: SCN8A heterozygous mutation presenting with epilepsy and paroxysmal dyskinesia.癫痫之外：携带SCN8A杂合突变的患者表现为癫痫和发作性运动障碍。
Ann Med Surg (Lond). 2024 Dec 12;87(2):438-440. doi: 10.1097/MS9.0000000000002978. eCollection 2025 Feb.
2
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[Clinical characteristics and genetic features of benign infantile epilepsy with PRRT2 mutation].[伴有PRRT2突变的良性婴儿癫痫的临床特征与遗传学特征]
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A multi-disciplinary clinic for SCN8A-related epilepsy.SCN8A 相关性癫痫的多学科临床诊疗中心。
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本文引用的文献

1
Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications.SCN8A 相关疾病的基因型-表型相关性揭示了预后和治疗意义。
Brain. 2022 Sep 14;145(9):2991-3009. doi: 10.1093/brain/awab321.
2
Sodium channelopathies in neurodevelopmental disorders.神经发育障碍中的钠通道病。
Nat Rev Neurosci. 2021 Mar;22(3):152-166. doi: 10.1038/s41583-020-00418-4. Epub 2021 Feb 2.
3
Clonazepam add-on therapy for drug-resistant epilepsy.氯硝西泮辅助治疗耐药性癫痫。
Cochrane Database Syst Rev. 2020 Apr 20;4(4):CD012253. doi: 10.1002/14651858.CD012253.pub3.
4
The spectrum of intermediate SCN8A-related epilepsy.中间 SCN8A 相关癫痫的频谱。
Epilepsia. 2019 May;60(5):830-844. doi: 10.1111/epi.14705. Epub 2019 Apr 10.
5
Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation.SCN8A 突变致良性婴儿发作性疾病和阵发性运动障碍
Ann Neurol. 2016 Mar;79(3):428-36. doi: 10.1002/ana.24580. Epub 2016 Feb 13.
6
Therapeutic genome editing: prospects and challenges.治疗性基因组编辑：前景与挑战。
Nat Med. 2015 Feb;21(2):121-31. doi: 10.1038/nm.3793.
7
Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia.外显子组测序鉴定出 PRRT2 中的截断突变，这些突变导致阵发性运动诱发性运动障碍。
Nat Genet. 2011 Nov 20;43(12):1252-5. doi: 10.1038/ng.1008.
8
Key factors in the discovery and development of new antiepileptic drugs.新型抗癫痫药物研发的关键因素。
Nat Rev Drug Discov. 2010 Jan;9(1):68-82. doi: 10.1038/nrd2997.
9
Prospective long-term study of vagus nerve stimulation for the treatment of refractory seizures.迷走神经刺激治疗难治性癫痫的前瞻性长期研究。
Epilepsia. 2000 Sep;41(9):1195-200. doi: 10.1111/j.1528-1157.2000.tb00325.x.
10
Familial infantile convulsions and paroxysmal choreoathetosis: a new neurological syndrome linked to the pericentromeric region of human chromosome 16.家族性婴儿惊厥和阵发性舞蹈手足徐动症：一种与人类16号染色体着丝粒周围区域相关的新神经综合征。
Am J Hum Genet. 1997 Oct;61(4):889-98. doi: 10.1086/514877.