Journal article icon

Journal article

De novo mutations in GRIN1 cause extensive bilateral polymicrogyria

Abstract:

Polymicrogyria is a malformation of cortical development. The aetiology of polymicrogyria remains poorly understood. Using whole-exome sequencing we found de novo heterozygous missense GRIN1 mutations in 2 of 57 parent-offspring trios with polymicrogyria. We found nine further de novo missense GRIN1 mutations in additional cortical malformation patients. Shared features in the patients were extensive bilateral polymicrogyria associated with severe developmental delay, postnatal microcephaly, ...

Expand abstract
Publication status:
Published
Peer review status:
Peer reviewed
Version:
Publisher's Version

Actions


Access Document


Files:
Publisher copy:
10.1093/brain/awx358

Authors


More by this author
Role:
Author
ORCID:
0000-0001-9778-6924
More by this author
Role:
Author
ORCID:
0000-0002-6675-2112
Expand authors...
Publisher:
Oxford University Press Publisher's website
Journal:
Brain Journal website
Volume:
141
Issue:
3
Pages:
698–712
Publication date:
2018-01-22
Acceptance date:
2017-11-14
DOI:
EISSN:
1460-2156
ISSN:
0006-8950
Pubs id:
pubs:821306
URN:
uri:02104970-55ea-411a-ac4b-9049096983f0
UUID:
uuid:02104970-55ea-411a-ac4b-9049096983f0
Local pid:
pubs:821306

Terms of use


Metrics


Views and Downloads






If you are the owner of this record, you can report an update to it here: Report update to this record

TO TOP