Literature DB >> 30249355

Somatic Mutation in Pediatric Neurological Diseases.

Rachel E Rodin1, Christopher A Walsh2.   

Abstract

Entities:  

Keywords:  Autism spectrum disorder; Cortical malformation; Development; Mosaic fraction; Mosaicism; Somatic mutation

Mesh：

Year:  2018        PMID： 30249355      PMCID： PMC6289746          DOI： 10.1016/j.pediatrneurol.2018.08.008

Source DB:  PubMed          Journal:  Pediatr Neurol        ISSN： 0887-8994            Impact factor:   3.372


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  15 in total

1.  PI3K/AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasia.

Authors:  Laura A Jansen; Ghayda M Mirzaa; Gisele E Ishak; Brian J O'Roak; Joseph B Hiatt; William H Roden; Sonya A Gunter; Susan L Christian; Sarah Collins; Carissa Adams; Jean-Baptiste Rivière; Judith St-Onge; Jeffrey G Ojemann; Jay Shendure; Robert F Hevner; William B Dobyns
Journal:  Brain       Date:  2015-02-25       Impact factor: 13.501

2.  A girl with neurofibromatosis type 1, atypical autism and mosaic ring chromosome 17.

Authors:  Marketa Havlovicova; Drahuse Novotna; Eduard Kocarek; Kamila Novotna; Sarka Bendova; Borivoj Petrak; Michal Hrdlicka; Zdenek Sedlacek
Journal:  Am J Med Genet A       Date:  2007-01-01       Impact factor: 2.802

3.  Somatic Mutations in the MTOR gene cause focal cortical dysplasia type IIb.

Authors:  Mitsuko Nakashima; Hirotomo Saitsu; Nobuyuki Takei; Jun Tohyama; Mitsuhiro Kato; Hiroki Kitaura; Masaaki Shiina; Hiroshi Shirozu; Hiroshi Masuda; Keisuke Watanabe; Chihiro Ohba; Yoshinori Tsurusaki; Noriko Miyake; Yingjun Zheng; Tatsuhiro Sato; Hirohide Takebayashi; Kazuhiro Ogata; Shigeki Kameyama; Akiyoshi Kakita; Naomichi Matsumoto
Journal:  Ann Neurol       Date:  2015-07-03       Impact factor: 10.422

4.  Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder.

Authors:  Deidre R Krupp; Rebecca A Barnard; Yannis Duffourd; Sara A Evans; Ryan M Mulqueen; Raphael Bernier; Jean-Baptiste Rivière; Eric Fombonne; Brian J O'Roak
Journal:  Am J Hum Genet       Date:  2017-08-31       Impact factor: 11.025

5.  Somatic Mutations Activating the mTOR Pathway in Dorsal Telencephalic Progenitors Cause a Continuum of Cortical Dysplasias.

Authors:  Alissa M D'Gama; Mollie B Woodworth; Amer A Hossain; Sara Bizzotto; Nicole E Hatem; Christopher M LaCoursiere; Imad Najm; Zhong Ying; Edward Yang; A James Barkovich; David J Kwiatkowski; Harry V Vinters; Joseph R Madsen; Gary W Mathern; Ingmar Blümcke; Annapurna Poduri; Christopher A Walsh
Journal:  Cell Rep       Date:  2017-12-26       Impact factor: 9.423

6.  Somatic mutations in cerebral cortical malformations.

Authors:  Saumya S Jamuar; Anh-Thu N Lam; Martin Kircher; Alissa M D'Gama; Jian Wang; Brenda J Barry; Xiaochang Zhang; Robert Sean Hill; Jennifer N Partlow; Aldo Rozzo; Sarah Servattalab; Bhaven K Mehta; Meral Topcu; Dina Amrom; Eva Andermann; Bernard Dan; Elena Parrini; Renzo Guerrini; Ingrid E Scheffer; Samuel F Berkovic; Richard J Leventer; Yiping Shen; Bai Lin Wu; A James Barkovich; Mustafa Sahin; Bernard S Chang; Michael Bamshad; Deborah A Nickerson; Jay Shendure; Annapurna Poduri; Timothy W Yu; Christopher A Walsh
Journal:  N Engl J Med       Date:  2014-08-21       Impact factor: 91.245

7.  De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes.

Authors:  Jean-Baptiste Rivière; Ghayda M Mirzaa; Brian J O'Roak; Margaret Beddaoui; Diana Alcantara; Robert L Conway; Judith St-Onge; Jeremy A Schwartzentruber; Karen W Gripp; Sarah M Nikkel; Thea Worthylake; Christopher T Sullivan; Thomas R Ward; Hailly E Butler; Nancy A Kramer; Beate Albrecht; Christine M Armour; Linlea Armstrong; Oana Caluseriu; Cheryl Cytrynbaum; Beth A Drolet; A Micheil Innes; Julie L Lauzon; Angela E Lin; Grazia M S Mancini; Wendy S Meschino; James D Reggin; Anand K Saggar; Tally Lerman-Sagie; Gökhan Uyanik; Rosanna Weksberg; Birgit Zirn; Chandree L Beaulieu; Jacek Majewski; Dennis E Bulman; Mark O'Driscoll; Jay Shendure; John M Graham; Kym M Boycott; William B Dobyns
Journal:  Nat Genet       Date:  2012-06-24       Impact factor: 38.330

8.  Aneuploidy and confined chromosomal mosaicism in the developing human brain.

Authors:  Yuri B Yurov; Ivan Y Iourov; Svetlana G Vorsanova; Thomas Liehr; Alexei D Kolotii; Sergei I Kutsev; Franck Pellestor; Alfia K Beresheva; Irina A Demidova; Viktor S Kravets; Viktor V Monakhov; Ilia V Soloviev
Journal:  PLoS One       Date:  2007-06-27       Impact factor: 3.240

9.  Mosaic structural variation in children with developmental disorders.

Authors:  Daniel A King; Wendy D Jones; Yanick J Crow; Anna F Dominiczak; Nicola A Foster; Tom R Gaunt; Jade Harris; Stephen W Hellens; Tessa Homfray; Josie Innes; Elizabeth A Jones; Shelagh Joss; Abhijit Kulkarni; Sahar Mansour; Andrew D Morris; Michael J Parker; David J Porteous; Hashem A Shihab; Blair H Smith; Katrina Tatton-Brown; John L Tolmie; Maciej Trzaskowski; Pradeep C Vasudevan; Emma Wakeling; Michael Wright; Robert Plomin; Nicholas J Timpson; Matthew E Hurles
Journal:  Hum Mol Genet       Date:  2015-01-29       Impact factor: 6.150

10.  Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next-generation sequencing study.

Authors:  Ghayda M Mirzaa; Valerio Conti; Andrew E Timms; Christopher D Smyser; Sarah Ahmed; Melissa Carter; Sarah Barnett; Robert B Hufnagel; Amy Goldstein; Yoko Narumi-Kishimoto; Carissa Olds; Sarah Collins; Kathreen Johnston; Jean-François Deleuze; Patrick Nitschké; Kathryn Friend; Catharine Harris; Allison Goetsch; Beth Martin; Evan August Boyle; Elena Parrini; Davide Mei; Lorenzo Tattini; Anne Slavotinek; Ed Blair; Christopher Barnett; Jay Shendure; Jamel Chelly; William B Dobyns; Renzo Guerrini
Journal:  Lancet Neurol       Date:  2015-10-29       Impact factor: 44.182
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  7 in total

1.  Genome aging: somatic mutation in the brain links age-related decline with disease and nominates pathogenic mechanisms.

Authors:  Michael A Lodato; Christopher A Walsh
Journal:  Hum Mol Genet       Date:  2019-10-15       Impact factor: 6.150

Review 2.  CfDNA Measurement as a Diagnostic Tool for the Detection of Brain Somatic Mutations in Refractory Epilepsy.

Authors:  Sonia Mayo; Irene Gómez-Manjón; Francisco Javier Fernández-Martínez; Ana Camacho; Francisco Martínez; Julián Benito-León
Journal:  Int J Mol Sci       Date:  2022-04-28       Impact factor: 6.208

Review 3.  The role of GABAergic signalling in neurodevelopmental disorders.

Authors:  Xin Tang; Rudolf Jaenisch; Mriganka Sur
Journal:  Nat Rev Neurosci       Date:  2021-03-26       Impact factor: 34.870

4.  A clinical survey of mosaic single nucleotide variants in disease-causing genes detected by exome sequencing.

Authors:  Ye Cao; Mari J Tokita; Edward S Chen; Rajarshi Ghosh; Tiansheng Chen; Yanming Feng; Elizabeth Gorman; Federica Gibellini; Patricia A Ward; Alicia Braxton; Xia Wang; Linyan Meng; Rui Xiao; Weimin Bi; Fan Xia; Christine M Eng; Yaping Yang; Tomasz Gambin; Chad Shaw; Pengfei Liu; Pawel Stankiewicz
Journal:  Genome Med       Date:  2019-07-26       Impact factor: 11.117

5.  Detection of low-level parental somatic mosaicism for clinically relevant SNVs and indels identified in a large exome sequencing dataset.

Authors:  Daniel D Domogala; Tomasz Gambin; Roni Zemet; Chung Wah Wu; Katharina V Schulze; Yaping Yang; Theresa A Wilson; Ido Machol; Pengfei Liu; Paweł Stankiewicz
Journal:  Hum Genomics       Date:  2021-12-20       Impact factor: 6.481

6.  Mosaic PTEN alteration in the neural crest during embryogenesis results in multiple nervous system hamartomas.

Authors:  Alice Goldenberg; Florent Marguet; Vianney Gilard; Aude-Marie Cardine; Adnan Hassani; François Doz; Sophie Radi; Stéphanie Vasseur; Jacqueline Bou; Maud Branchaud; Claude Houdayer; Stéphanie Baert-Desurmont; Annie Laquerriere; Thierry Frebourg
Journal:  Acta Neuropathol Commun       Date:  2019-12-03       Impact factor: 7.801

7.  Sequence characterization of RET in 117 Chinese Hirschsprung disease families identifies a large burden of de novo and parental mosaic mutations.

Authors:  Qian Jiang; Yang Wang; Qi Li; Zhen Zhang; Ping Xiao; Hui Wang; Na Liu; Jian Wu; Feng Zhang; Aravinda Chakravarti; Wei Cai; Long Li
Journal:  Orphanet J Rare Dis       Date:  2019-10-30       Impact factor: 4.123
  7 in total

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