A de novo mutation in PRICKLE1 associated with myoclonic epilepsy and autism spectrum disorder

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.

Keywords:

• PRICKLE1
• de novo mutation
• prickle
• epilepsy
• autism spectrum disorder

Disclosure statement

No potential conflict of interest was reported by the authors.

Additional information

Funding

Funding from NIH 5R01NS098590 (to AGB).