PRICKLE1 -related early onset epileptic encephalopathy-Reference-Cited by-同舟云学术

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PRICKLE1 -related early onset epileptic encephalopathy

Published:2018-10-22 Issue:12 Volume:176 Page:2841-2845
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Mastrangelo Mario¹^ORCID,Tolve Manuela²,Martinelli Martina¹,Di Noia Sofia P.¹,Parrini Elena³,Leuzzi Vincenzo¹

Affiliation:

1. Department of Human Neuroscience; “Sapienza, University of Rome”; Rome Italy

2. Department of Experimental Medicine; “Sapienza, University of Rome”; Rome Italy

3. Neuroscience and Neurogenetics Department; Meyer Children’s Hospital, University of Florence; Florence Italy

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.40625/fullpdf

Reference7 articles.

1. A de novo mutation in PRICKLE1 in fetal agenesis of the corpus callosum and polymicrogyria;Bassuk;Journal of Neurogenetics,2015

2. A homozygous mutation in human PRICKLE1 causes an autosomal-recessive progressive myoclonus epilepsy-ataxia syndrome;Bassuk;American Journal of Human Genetics,2008

3. Identification and characterization of novel rare mutations in the planar cell polarity gene PRICKLE1 in human neural tube defects;Bosoi;Human Mutation,2011

4. Prickle modulates microtubule polarity and axonal transport to ameliorate seizures in flies;Ehaideb;Proceedings of the National Academy of Sciences of the United States of America,2014

5. Seizures are regulated by ubiquitin-specific peptidase 9 X-linked (USP9X), a de-ubiquitinase;Paemka;PLoS Genetics,2015

Cited by 12 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. Emerging roles of planar cell polarity proteins in glutamatergic synapse formation, maintenance and function in health and disease;Developmental Dynamics;2023-02-24

2. Epilepsy gene prickle ensures neuropil glial ensheathment through regulating cell adhesion molecules;iScience;2023-01

3. CELSR1 variants are associated with partial epilepsy of childhood;American Journal of Medical Genetics Part B: Neuropsychiatric Genetics;2022-08-12

4. Defining causal variants in rare epilepsies: an essential team effort between biomedical scientists, geneticists and epileptologists;European Journal of Medical Genetics;2022-07

5. Mutation of the murine Prickle1 (R104Q) causes phenotypes analogous to human symptoms of epilepsy and autism;Experimental Neurology;2022-01

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