Journal article
A de novo mutation in PRICKLE1 associated with myoclonic epilepsy and autism spectrum disorder
Journal of neurogenetics, Vol.32(4), pp.313-315
10/02/2018
DOI: 10.1080/01677063.2018.1473862
PMCID: PMC6251753
PMID: 29790814
Abstract
Homozygous recessive mutations in the PRICKLE1 gene were first described in three consanguineous families with myoclonic epilepsy. Subsequent studies have identified neurological abnormalities in humans and animal models with both heterozygous and homozygous mutations in PRICKLE1 orthologs. We describe a 7-year-old with a novel de novo missense mutation in PRICKLE1 associated with epilepsy, autism spectrum disorder and global developmental delay.
Details
- Title: Subtitle
- A de novo mutation in PRICKLE1 associated with myoclonic epilepsy and autism spectrum disorder
- Creators
- Brittany P Todd - Department of Pediatrics, The University of IowaAlexander G Bassuk - Department of Pediatrics, The University of Iowa
- Resource Type
- Journal article
- Publication Details
- Journal of neurogenetics, Vol.32(4), pp.313-315
- Publisher
- Taylor & Francis
- DOI
- 10.1080/01677063.2018.1473862
- PMID
- 29790814
- PMCID
- PMC6251753
- ISSN
- 0167-7063
- eISSN
- 1563-5260
- Grant note
- 5R01NS098590 / NIH
- Language
- English
- Date published
- 10/02/2018
- Academic Unit
- Neurology; Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Neurology (Pediatrics)
- Record Identifier
- 9984070977102771
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