Literature DB >> 26727662

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

Alexander G Bassuk1, Elliott H Sherr2.   

Abstract

Homozygous recessive mutations in the PRICKLE1 gene were originally reported in three consanguineous families with myoclonic epilepsy. Subsequently, several studies have identified neurological abnormalities in animal models with both heterozygous and homozygous mutations in PRICKLE1 orthologues, including epilepsy in flies and in mice with heterozygous PRICKLE1 mutations. We describe a fetus with a novel de novo mutation in PRICKLE1 associated with agenesis of the corpus callosum.

Entities:  

Keywords:  Corpus callosum; PRICKLE1; de novo mutation; fetal; polymicrogyria; prickle

Mesh：

Substances：

Year:  2016        PMID： 26727662      PMCID： PMC4813514          DOI： 10.3109/01677063.2015.1088847

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.  Prickle1 is necessary for the caudal migration of murine facial branchiomotor neurons.

Authors:  Tian Yang; Alexander G Bassuk; Sigmar Stricker; Bernd Fritzsch
Journal:  Cell Tissue Res       Date:  2014-06-15       Impact factor: 5.249

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.  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

6.  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.  Mechanisms of prickle1a function in zebrafish epilepsy and retinal neurogenesis.

Authors:  Xue Mei; Shu Wu; Alexander G Bassuk; Diane C Slusarski
Journal:  Dis Model Mech       Date:  2013-01-11       Impact factor: 5.758
  7 in total
  5 in total

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

Authors:  Brittany P Todd; Alexander G Bassuk
Journal:  J Neurogenet       Date:  2018-05-23       Impact factor: 1.250

2.  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

3.  Response to Sandford et al.: PRICKLE2 Variants in Epilepsy: A Call for Precision Medicine.

Authors:  Vinit B Mahajan; Alexander G Bassuk
Journal:  Am J Hum Genet       Date:  2016-03-03       Impact factor: 11.025

4.  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

5.  Histone Deacetylase Inhibitors Ameliorate Morphological Defects and Hypoexcitability of iPSC-Neurons from Rubinstein-Taybi Patients.

Authors:  Valentina Alari; Paolo Scalmani; Paola Francesca Ajmone; Sara Perego; Sabrina Avignone; Ilaria Catusi; Paola Adele Lonati; Maria Orietta Borghi; Palma Finelli; Benedetta Terragni; Massimo Mantegazza; Silvia Russo; Lidia Larizza
Journal:  Int J Mol Sci       Date:  2021-05-28       Impact factor: 5.923
  5 in total

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