Journal article
A de novo mutation in PRICKLE1 in fetal agenesis of the corpus callosum and polymicrogyria
Journal of neurogenetics, Vol.29(4), pp.174-177
10/02/2015
DOI: 10.3109/01677063.2015.1088847
PMCID: PMC4813514
PMID: 26727662
Abstract
Homozygous recessive mutations in the PRICKLE1 gene were originally reported in three consanguineous families with myoclonic epilepsy. Subsequently, several studies have identified neurological abnormalities in animal models with both heterozygous and homozygous mutations in PRICKLE1 orthologues, including epilepsy in flies and in mice with heterozygous PRICKLE1 mutations. We describe a fetus with a novel de novo mutation in PRICKLE1 associated with agenesis of the corpus callosum.
Details
- Title: Subtitle
- A de novo mutation in PRICKLE1 in fetal agenesis of the corpus callosum and polymicrogyria
- Creators
- Alexander G Bassuk - Department of Pediatrics, Division of Pediatric Neurology, The University of IowaElliott H Sherr - Department of Neurology, University of California, San Francisco
- Resource Type
- Journal article
- Publication Details
- Journal of neurogenetics, Vol.29(4), pp.174-177
- DOI
- 10.3109/01677063.2015.1088847
- PMID
- 26727662
- PMCID
- PMC4813514
- NLM abbreviation
- J Neurogenet
- ISSN
- 0167-7063
- eISSN
- 1563-5260
- Publisher
- Taylor & Francis
- Language
- English
- Date published
- 10/02/2015
- Academic Unit
- Neurology; Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Neurology (Pediatrics)
- Record Identifier
- 9984020614202771
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