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Childhood-onset epileptic encephalopathy due to exon 1-4 tandem duplication.

作者信息

Verheyen Sarah, Speicher Michael R, Ramler Barbara, Plecko Barbara

机构信息

Institute of Human Genetics (S.V., M.R.S., B.R.), Diagnostic and Research Center for MolecularBioMedicine, Medical University of Graz; and Department of Pediatrics and Adolescent Medicine (B.P.), Division of General Pediatrics, Medical University of Graz, Austria.

出版信息

Neurol Genet. 2020 Jul 17;6(5):e494. doi: 10.1212/NXG.0000000000000494. eCollection 2020 Oct.

DOI:10.1212/NXG.0000000000000494
PMID:32802954
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7371371/
Abstract
摘要

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本文引用的文献

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Brain Dev. 2018 Sep;40(8):728-732. doi: 10.1016/j.braindev.2018.04.002. Epub 2018 Apr 23.
2
Heterogeneity of FHF1 related phenotype: Novel case with early onset severe attacks of apnea, partial mitochondrial respiratory chain complex II deficiency, neonatal onset seizures without neurodegeneration.FHF1相关表型的异质性：一例新病例，表现为早发性严重呼吸暂停发作、部分线粒体呼吸链复合物II缺乏、新生儿期发作且无神经变性。
Eur J Paediatr Neurol. 2017 Sep;21(5):783-786. doi: 10.1016/j.ejpn.2017.04.001. Epub 2017 Apr 29.
3
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Neurol Genet. 2017 Jan 23;3(1):e133. doi: 10.1212/NXG.0000000000000133. eCollection 2017 Feb.
4
De novo mutation in 2 patients with neonatal-onset epilepsy.2例新生儿期起病癫痫患者的新发突变
Neurol Genet. 2016 Nov 10;2(6):e120. doi: 10.1212/NXG.0000000000000120. eCollection 2016 Dec.
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FHF1 (FGF12) epileptic encephalopathy.FHF1（FGF12）型癫痫性脑病
Neurol Genet. 2016 Oct 28;2(6):e115. doi: 10.1212/NXG.0000000000000115. eCollection 2016 Dec.
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Gain-of-function FHF1 mutation causes early-onset epileptic encephalopathy with cerebellar atrophy.功能获得性FHF1突变导致早发性癫痫性脑病伴小脑萎缩。
Neurology. 2016 Jun 7;86(23):2162-70. doi: 10.1212/WNL.0000000000002752. Epub 2016 May 4.
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