PRICKLE2 Mutations Might Not Be Involved in Epilepsy
Author:
Publisher
Elsevier BV
Subject
Genetics (clinical),Genetics
Reference10 articles.
1. Mutations in prickle orthologs cause seizures in flies, mice, and humans;Tao;Am. J. Hum. Genet.,2011
2. A homozygous mutation in human PRICKLE1 causes an autosomal-recessive progressive myoclonus epilepsy-ataxia syndrome;Bassuk;Am. J. Hum. Genet.,2008
3. Progressive myoclonus and epilepsy with dentatorubral degeneration: a clinicopathological study of the Ramsay Hunt syndrome;Bird;J. Neurol. Neurosurg. Psychiatry,1978
4. Apraxia of lid opening mimicking ptosis in compound heterozygosity for A467T and W748S POLG1 mutations;Paus;Mov. Disord.,2008
5. Parieto-occipital lobe epilepsy caused by a POLG1 compound heterozygous A467T/W748S genotype;Roshal;Epilepsy Behav.,2011
Cited by 3 articles. 订阅此论文施引文献 订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献
1. PRICKLE2 revisited—further evidence implicating PRICKLE2 in neurodevelopmental disorders;European Journal of Human Genetics;2021-06-07
2. Linking Cell Polarity to Cortical Development and Malformations;Frontiers in Cellular Neuroscience;2019-06-04
3. Response to Sandford et al.: PRICKLE2 Variants in Epilepsy: A Call for Precision Medicine;The American Journal of Human Genetics;2016-03
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