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Article

Mutation of the murine Prickle1 (R104Q) causes phenotypes analogous to human symptoms of epilepsy and autism.

Experimental neurology - 1 Jan 2022

Ban Yue, Yu Ting, Wang Jingyi, Wang Xiaojia, Liu Can, Baker Clayton, Zou Yimin

Abstract excerpt

Epilepsy and autism spectrum disorders (ASD) frequently show comorbidity, suggesting shared or overlapping neurobiological basis underlying these conditions. R104Q is the first mutation in the PRICKLE 1(PK1) gene that was discovered in human patients with progressive myoclonus epilepsy (PME). Subsequently, a number of mutations in the PK1 gene were shown to be associated with either epilepsy, autism, or both, as...

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Adaptor Proteins, Signal Transducing
Autism Spectrum Disorder
Disease Models, Animal
Epilepsy
Gene Editing

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

LIM Domain Proteins

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PMID: 34597683
DOI: 10.1016/j.expneurol.2021.113880
PMCID: PMC8718102

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