Literature DB >> 29790814

A de novo mutation in PRICKLE1 associated with myoclonic epilepsy and autism spectrum disorder.

Brittany P Todd1, Alexander G Bassuk1.   

Abstract

Homozygous recessive mutations in the PRICKLE1 gene were first described in three consanguineous families with myoclonic epilepsy. Subsequent studies have identified neurological abnormalities in humans and animal models with both heterozygous and homozygous mutations in PRICKLE1 orthologs. We describe a 7-year-old with a novel de novo missense mutation in PRICKLE1 associated with epilepsy, autism spectrum disorder and global developmental delay.

Entities:  

Keywords:  PRICKLE1; autism spectrum disorder; de novo mutation; epilepsy; prickle

Mesh：

Substances：

Year:  2018        PMID： 29790814      PMCID： PMC6251753          DOI： 10.1080/01677063.2018.1473862

Source DB:  PubMed          Journal:  J Neurogenet        ISSN： 0167-7063            Impact factor:   1.250


  7 in total

1.  prickle modulates microtubule polarity and axonal transport to ameliorate seizures in flies.

Authors:  Salleh N Ehaideb; Atulya Iyengar; Atsushi Ueda; Gary J Iacobucci; Cathryn Cranston; Alexander G Bassuk; David Gubb; Jeffrey D Axelrod; Shermali Gunawardena; Chun-Fang Wu; J Robert Manak
Journal:  Proc Natl Acad Sci U S A       Date:  2014-07-14       Impact factor: 11.205

2.  A de novo mutation in PRICKLE1 in fetal agenesis of the corpus callosum and polymicrogyria.

Authors:  Alexander G Bassuk; Elliott H Sherr
Journal:  J Neurogenet       Date:  2016-01-04       Impact factor: 1.250

3.  Identification and characterization of novel rare mutations in the planar cell polarity gene PRICKLE1 in human neural tube defects.

Authors:  Ciprian M Bosoi; Valeria Capra; Redouane Allache; Vincent Quoc-Huy Trinh; Patrizia De Marco; Elisa Merello; Pierre Drapeau; Alexander G Bassuk; Zoha Kibar
Journal:  Hum Mutat       Date:  2011-09-23       Impact factor: 4.878

4.  Mutations in prickle orthologs cause seizures in flies, mice, and humans.

Authors:  Hirotaka Tao; J Robert Manak; Levi Sowers; Xue Mei; Hiroshi Kiyonari; Takaya Abe; Nader S Dahdaleh; Tian Yang; Shu Wu; Shan Chen; Mark H Fox; Christina Gurnett; Thomas Montine; Thomas Bird; Lisa G Shaffer; Jill A Rosenfeld; Juliann McConnell; Suneeta Madan-Khetarpal; Elizabeth Berry-Kravis; Hilary Griesbach; Russell P Saneto; Matthew P Scott; Dragana Antic; Jordan Reed; Riley Boland; Salleh N Ehaideb; Hatem El-Shanti; Vinit B Mahajan; Polly J Ferguson; Jeffrey D Axelrod; Anna-Elina Lehesjoki; Bernd Fritzsch; Diane C Slusarski; John Wemmie; Naoto Ueno; Alexander G Bassuk
Journal:  Am J Hum Genet       Date:  2011-02-03       Impact factor: 11.025

5.  The role of combined SNV and CNV burden in patients with distal symmetric polyneuropathy.

Authors:  Davut Pehlivan; Christine R Beck; Yuji Okamoto; Tamar Harel; Zeynep H C Akdemir; Shalini N Jhangiani; Marjorie A Withers; Meryem Tuba Goksungur; Claudia M B Carvalho; Dirk Czesnik; Claudia Gonzaga-Jauregui; Wojciech Wiszniewski; Donna M Muzny; Richard A Gibbs; Bernd Rautenstrauss; Michael W Sereda; James R Lupski
Journal:  Genet Med       Date:  2015-09-17       Impact factor: 8.822

6.  PRICKLE1 interaction with SYNAPSIN I reveals a role in autism spectrum disorders.

Authors:  Lily Paemka; Vinit B Mahajan; Jessica M Skeie; Levi P Sowers; Salleh N Ehaideb; Pedro Gonzalez-Alegre; Toshikuni Sasaoka; Hirotaka Tao; Asuka Miyagi; Naoto Ueno; Keizo Takao; Tsuyoshi Miyakawa; Shu Wu; Benjamin W Darbro; Polly J Ferguson; Andrew A Pieper; Jeremiah K Britt; John A Wemmie; Danielle S Rudd; Thomas Wassink; Hatem El-Shanti; Heather C Mefford; Gemma L Carvill; J Robert Manak; Alexander G Bassuk
Journal:  PLoS One       Date:  2013-12-03       Impact factor: 3.240

7.  A homozygous mutation in human PRICKLE1 causes an autosomal-recessive progressive myoclonus epilepsy-ataxia syndrome.

Authors:  Alexander G Bassuk; Robyn H Wallace; Aimee Buhr; Andrew R Buller; Zaid Afawi; Masahito Shimojo; Shingo Miyata; Shan Chen; Pedro Gonzalez-Alegre; Hilary L Griesbach; Shu Wu; Marcus Nashelsky; Eszter K Vladar; Dragana Antic; Polly J Ferguson; Sebahattin Cirak; Thomas Voit; Matthew P Scott; Jeffrey D Axelrod; Christina Gurnett; Azhar S Daoud; Sara Kivity; Miriam Y Neufeld; Aziz Mazarib; Rachel Straussberg; Simri Walid; Amos D Korczyn; Diane C Slusarski; Samuel F Berkovic; Hatem I El-Shanti
Journal:  Am J Hum Genet       Date:  2008-10-30       Impact factor: 11.025
  7 in total
  7 in total

1.  Sudden unexpected death with rare compound heterozygous variants in PRICKLE1.

Authors:  Yukiko Hata; Koji Yoshida; Naoki Nishida
Journal:  Neurogenetics       Date:  2018-12-18       Impact factor: 2.660

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

Authors:  Yue Ban; Ting Yu; Jingyi Wang; Xiaojia Wang; Can Liu; Clayton Baker; Yimin Zou
Journal:  Exp Neurol       Date:  2021-09-28       Impact factor: 5.330

3.  Genetic characteristics of non-familial epilepsy.

Authors:  Kyung Wook Kang; Wonkuk Kim; Yong Won Cho; Sang Kun Lee; Ki-Young Jung; Wonchul Shin; Dong Wook Kim; Won-Joo Kim; Hyang Woon Lee; Woojun Kim; Keuntae Kim; So-Hyun Lee; Seok-Yong Choi; Myeong-Kyu Kim
Journal:  PeerJ       Date:  2019-12-19       Impact factor: 2.984

4.  Variable neurodevelopmental and morphological phenotypes of carriers with 12q12 duplications.

Authors:  Lynnea Myers; Moira Blyth; Kamran Moradkhani; Dubravka Hranilović; Sam Polesie; Johan Isaksson; Ann Nordgren; Maja Bucan; Marie Vincent; Sven Bölte; Britt-Marie Anderlid; Kristiina Tammimies
Journal:  Mol Genet Genomic Med       Date:  2019-11-15       Impact factor: 2.183

5.  Prickle promotes the formation and maintenance of glutamatergic synapses by stabilizing the intercellular planar cell polarity complex.

Authors:  Yue Ban; Ting Yu; Bo Feng; Charlotte Lorenz; Xiaojia Wang; Clayton Baker; Yimin Zou
Journal:  Sci Adv       Date:  2021-10-06       Impact factor: 14.136

6.  Distinct overlapping functions for Prickle1 and Prickle2 in the polarization of the airway epithelium.

Authors:  Koshi Kunimoto; Alexis T Weiner; Jeffrey D Axelrod; Eszter K Vladar
Journal:  Front Cell Dev Biol       Date:  2022-09-13

7.  Excessive β-Catenin in Excitatory Neurons Results in Reduced Social and Increased Repetitive Behaviors and Altered Expression of Multiple Genes Linked to Human Autism.

Authors:  Jonathan Michael Alexander; Antonella Pirone; Michele H Jacob
Journal:  Front Synaptic Neurosci       Date:  2020-03-31
  7 in total

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