A novel lethal recognizable polymicrogyric syndrome caused by ATP1A2 homozygous truncating variants-Reference-Cited by-同舟云学术

A novel lethal recognizable polymicrogyric syndrome caused by ATP1A2 homozygous truncating variants

Published:2019-09-17 Issue:11 Volume:142 Page:3367-3374
ISSN:0006-8950
Container-title:Brain
language:en
Short-container-title:

Author:

Chatron Nicolas¹²,Cabet Sara³^ORCID,Alix Eudeline¹,Buenerd Annie⁴,Cox Phillip⁵^ORCID,Guibaud Laurent³,Labalme Audrey¹,Marks Peter⁶,Osio Deborah⁶^ORCID,Putoux Audrey¹²,Sanlaville Damien¹²,Lesca Gaetan¹²,Vasiljevic Alexandre⁴

Affiliation:

1. Genetics Department, Hospices Civils de Lyon, Lyon, France

2. GENDEV Team, CRNL, INSERM U1028, CNRS UMR 5292, UCBL1, Lyon, France

3. Imagerie pédiatrique et fœtale, UCBL Lyon I, Hôpital Femme Mère Enfant, Lyon-Bron, France

4. Institut de Pathologie Multi-sites des HCL/Centre de Pathologie et Fœtopathologie Est, Lyon, France

5. Department of Histopathology, Birmingham Women’s and Children’s Hospital NHSFT, Birmingham, UK

6. West Midlands Regional Genetics Service, Birmingham Women’s and Children’s Hospital NHSFT, Birmingham, UK

Abstract

Polymicrogyria is a malformation of cortical development. Chatron et al. describe four patients with a lethal syndromic polymicrogyria with necrotic and calcified areas in the basal ganglia, dentato-olivary dysplasia and severe hypoplasia/agenesis of the pyramidal tracts. Exome sequencing reveals the role of ATP1A2 homozygous variants in this new phenotype.

Publisher

Oxford University Press (OUP)

Subject

Neurology (clinical)

Link

http://academic.oup.com/brain/article-pdf/142/11/3367/30329832/awz272.pdf

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