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Sporadic Hemiplegic Migraine with CACNA1A Mutation Masquerading as Acute Meningoencephalitis.

作者信息

Gajam Siddhartha, Peterson Rachel Ranitha, Mathew Ann Agnes, Thomas Asha

机构信息

Department of Pediatrics, Bangalore Baptist Hospital, Hebbal, Bengaluru, Karnataka, India.

Department of Radiology, Bangalore Baptist Hospital, Hebbal, Bengaluru, Karnataka, India.

出版信息

Ann Indian Acad Neurol. 2022 May-Jun;25(3):528-529. doi: 10.4103/aian.aian_908_21. Epub 2022 Mar 10.

DOI:10.4103/aian.aian_908_21
PMID:35936582
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9350761/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a963/9350761/eae833ff404d/AIAN-25-528-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a963/9350761/eae833ff404d/AIAN-25-528-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a963/9350761/eae833ff404d/AIAN-25-528-g001.jpg

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Eur J Pediatr. 2025 Mar 20;184(4):261. doi: 10.1007/s00431-025-06062-3.
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Two pediatric patients with hemiplegic migraine presenting as acute encephalopathy: case reports and a literature review.

本文引用的文献

1
Diagnostic and therapeutic aspects of hemiplegic migraine.偏瘫性偏头痛的诊断与治疗方面。
J Neurol Neurosurg Psychiatry. 2020 Jul;91(7):764-771. doi: 10.1136/jnnp-2020-322850. Epub 2020 May 19.
2
Familial Hemiplegic Migraine With Progressive Cerebellar Ataxia Caused by a p.Thr666Met CACNA1A Gene Mutation in a Chinese Family.一个中国家庭中由p.Thr666Met CACNA1A基因突变引起的伴有进行性小脑共济失调的家族性偏瘫性偏头痛
Front Neurol. 2019 Nov 19;10:1221. doi: 10.3389/fneur.2019.01221. eCollection 2019.
3
Headache Classification Committee of the International Headache Society (IHS) The International Classification of Headache Disorders, 3rd edition.
两名表现为急性脑病的偏瘫型偏头痛儿科患者：病例报告及文献综述
Front Pediatr. 2023 Jul 28;11:1214837. doi: 10.3389/fped.2023.1214837. eCollection 2023.
4
The genotype-phenotype correlations of the -related neurodevelopmental disorders: a small case series and literature reviews.与神经发育障碍相关的基因型-表型相关性：一个小病例系列及文献综述。
Front Mol Neurosci. 2023 Jul 24;16:1222321. doi: 10.3389/fnmol.2023.1222321. eCollection 2023.
国际头痛协会（IHS）头痛分类委员会《国际头痛疾病分类》第三版
Cephalalgia. 2018 Jan;38(1):1-211. doi: 10.1177/0333102417738202.
4
More Than a Decade of Misdiagnosis of Alternating Hemiplegia of Childhood with Catastrophic Outcome.十多年来对儿童交替性偏瘫的误诊，导致灾难性后果。
Case Rep Med. 2017;2017:5769837. doi: 10.1155/2017/5769837. Epub 2017 Aug 16.
5
CACNA1A haploinsufficiency causes cognitive impairment, autism and epileptic encephalopathy with mild cerebellar symptoms.CACNA1A基因单倍体不足会导致认知障碍、自闭症以及伴有轻度小脑症状的癫痫性脑病。
Eur J Hum Genet. 2015 Nov;23(11):1505-12. doi: 10.1038/ejhg.2015.21. Epub 2015 Mar 4.
6
A novel SLC2A1 mutation linking hemiplegic migraine with alternating hemiplegia of childhood.一种将偏瘫性偏头痛与儿童交替性偏瘫相联系的新型SLC2A1突变。
Cephalalgia. 2015 Jan;35(1):10-5. doi: 10.1177/0333102414532379. Epub 2014 May 13.
7
CACNA1A gene de novo mutation causing hemiplegic migraine, coma, and cerebellar atrophy.导致偏瘫性偏头痛、昏迷和小脑萎缩的CACNA1A基因新发突变。
Neurology. 2000 Oct 10;55(7):1040-2. doi: 10.1212/wnl.55.7.1040.