A SEPSECS mutation in a 23-year-old woman with microcephaly and progressive cerebellar ataxia
Author:
Funder
Academic Medical Center (AMC)
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://link.springer.com/article/10.1007/s10545-018-0151-x/fulltext.html
Reference4 articles.
1. Agamy O, Ben ZB, Lev D et al (2010) Mutations disrupting Selenocysteine formation cause progressive Cerebello-cerebral atrophy. Am J Hum Genet 87(4):538–544
2. Anttonen AK, Hilander T, Linnankivi T et al (2015) Selenoprotein biosynthesis defect causes progressive encephalopathy with elevated lactate. Neurology 85(4):306–315
3. Olson HE, Kelly M, LaCoursiere CM et al (2017) Genetics and genotype–phenotype correlations in early onset epileptic encephalopathy with burst suppression. Ann Neurol 81(3):419–429
4. Pavlidou E, Salpietro V, Phadke R, et al (2016) Pontocerebellar hypoplasia type 2D and optic nerve atrophy further expand the spectrum associated with selenoprotein biosynthesis deficiency. Eur J Paediatr Neurol 20(3):483–488
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1. Aportando luz en la oscuridad: ataxia cerebelosa autosómica recesiva por mutación en el gen SEPSECS;Neurología;2022-10
2. Bringing light into the darkness: autosomal recessive cerebellar ataxia due to a recessive mutation in the SEPSECS gene;Neurología (English Edition);2022-10
3. Analysis of the Clinical Features and Imaging Findings of Pontocerebellar Hypoplasia Type 2D Caused by Mutations in SEPSECS Gene;The Cerebellum;2022-09-09
4. Novel SEPSECS Pathogenic Variants Featuring Unusual Phenotype of Complex Movement Disorder With Thin Corpus Callosum;Neurology Genetics;2022-03-03
5. Case Report: A Relatively Mild Phenotype Produced by Novel Mutations in the SEPSECS Gene;Frontiers in Pediatrics;2022-01-26
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