A de novo mutation in PRICKLE1 associated with myoclonic epilepsy and autism spectrum disorder
Author:
Affiliation:
1. Department of Pediatrics, The University of Iowa, Iowa City, United States
Funder
NIH
Publisher
Informa UK Limited
Subject
Cellular and Molecular Neuroscience,Genetics
Link
https://www.tandfonline.com/doi/pdf/10.1080/01677063.2018.1473862
Reference7 articles.
1. Ade novomutation inPRICKLE1in fetal agenesis of the corpus callosum and polymicrogyria
2. A Homozygous Mutation in Human PRICKLE1 Causes an Autosomal-Recessive Progressive Myoclonus Epilepsy-Ataxia Syndrome
3. Identification and characterization of novel rare mutations in the planar cell polarity genePRICKLE1in human neural tube defects
4. prickle modulates microtubule polarity and axonal transport to ameliorate seizures in flies
5. PRICKLE1 Interaction with SYNAPSIN I Reveals a Role in Autism Spectrum Disorders
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2. Analysis of common genetic variation across targets of microRNAs dysregulated both in ASD and epilepsy reveals negative correlation;Frontiers in Genetics;2023-03-09
3. Emerging roles of planar cell polarity proteins in glutamatergic synapse formation, maintenance and function in health and disease;Developmental Dynamics;2023-02-24
4. Epilepsy gene prickle ensures neuropil glial ensheathment through regulating cell adhesion molecules;iScience;2023-01
5. Distinct overlapping functions for Prickle1 and Prickle2 in the polarization of the airway epithelium;Frontiers in Cell and Developmental Biology;2022-09-13
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