Bassuk AG et al.A homozygous mutation in human PRICKLE1 causes an autosomal-recessive progressive myoclonus epilepsy-ataxia syndrome.Am J Hum Genet. 2008;83(5):572-81. PMID: 18976727.
Bosoi CM et al.Identification and characterization of novel rare mutations in the planar cell polarity gene PRICKLE1 in human neural tube defects. Hum Mutat. 2011;32(12):1371-5. PMID: 21901791.
Hata Y et al.Sudden unexpected death with rare compound heterozygous variants in PRICKLE1. Neurogenetics. 2019 Mar;20(1):39-43. PMID: 30564977.
Liu C et al.PRICKLE1 is expressed in distinct cell populations of the central nervous system and contributes to neuronal morphogenesis.Hum Mol Genet. 2013;22(11):2234-46. PMID: 23420014.
Mastrangelo M et al.PRICKLE1-related early onset epileptic encephalopathy. Am J Med Genet A. 2018;176(12):2841-2845. PMID: 30345727.
Todd BP, Bassuk AG. A de novo mutation in PRICKLE1 associated with myoclonic epilepsy and autism spectrum disorder. J Neurogenet. 2018;32(4):313-315. PMID: 29790814.