Literature DB >> 23745724

AKT3 and PIK3R2 mutations in two patients with megalencephaly-related syndromes: MCAP and MPPH.

K Nakamura1, M Kato, J Tohyama, T Shiohama, K Hayasaka, K Nishiyama, H Kodera, M Nakashima, Y Tsurusaki, N Miyake, N Matsumoto, H Saitsu.   

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Year:  2013        PMID： 23745724     DOI： 10.1111/cge.12188

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


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  12 in total

1.  De novo PIK3R2 variant causes polymicrogyria, corpus callosum hyperplasia and focal cortical dysplasia.

Authors:  Gaetano Terrone; Norine Voisin; Ali Abdullah Alfaiz; Gerarda Cappuccio; Giuseppina Vitiello; Nicolas Guex; Alessandra D'Amico; A James Barkovich; Nicola Brunetti-Pierri; Ennio Del Giudice; Alexandre Reymond
Journal:  Eur J Hum Genet       Date:  2016-02-10       Impact factor: 4.246

2.  Mammalian target of rapamycin pathway mutations cause hemimegalencephaly and focal cortical dysplasia.

Authors:  Alissa M D'Gama; Ying Geng; Javier A Couto; Beth Martin; Evan A Boyle; Christopher M LaCoursiere; Amer Hossain; Nicole E Hatem; Brenda J Barry; David J Kwiatkowski; Harry V Vinters; A James Barkovich; Jay Shendure; Gary W Mathern; Christopher A Walsh; Annapurna Poduri
Journal:  Ann Neurol       Date:  2015-02-26       Impact factor: 10.422

3.  Sudden death in a case of megalencephaly capillary malformation associated with a de novo mutation in AKT3.

Authors:  Atsuko Harada; Fuyuki Miya; Hidetsuna Utsunomiya; Mitsuhiro Kato; Takumi Yamanaka; Tatsuhiko Tsunoda; Kenjiro Kosaki; Yonehiro Kanemura; Mami Yamasaki
Journal:  Childs Nerv Syst       Date:  2014-11-22       Impact factor: 1.475

4.  Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome (MCAP): A Rare Dynamic Genetic Disorder.

Authors:  Kalyan Sarma; Manoj K Nayak; Biswamohan Mishra; Shailesh B Gaikwad
Journal:  Cureus       Date:  2022-05-18

5.  PIK3R2/Pik3r2 Activating Mutations Result in Brain Overgrowth and EEG Changes.

Authors:  Xiuyu Shi; Youngshin Lim; Abigail K Myers; Brenna L Stallings; Almedia Mccoy; Jordan Zeiger; Joshua Scheck; Ginam Cho; Eric D Marsh; Ghayda M Mirzaa; Tao Tao; Jeffrey A Golden
Journal:  Ann Neurol       Date:  2020-09-28       Impact factor: 10.422

6.  Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly.

Authors:  Diana Alcantara; Andrew E Timms; Karen Gripp; Laura Baker; Kaylee Park; Sarah Collins; Chi Cheng; Fiona Stewart; Sarju G Mehta; Anand Saggar; László Sztriha; Melinda Zombor; Oana Caluseriu; Ronit Mesterman; Margot I Van Allen; Adeline Jacquinet; Sofia Ygberg; Jonathan A Bernstein; Aaron M Wenger; Harendra Guturu; Gill Bejerano; Natalia Gomez-Ospina; Anna Lehman; Enrico Alfei; Chiara Pantaleoni; Valerio Conti; Renzo Guerrini; Ute Moog; John M Graham; Robert Hevner; William B Dobyns; Mark O'Driscoll; Ghayda M Mirzaa
Journal:  Brain       Date:  2017-10-01       Impact factor: 13.501

Review 7.  Proximal variants in CCND2 associated with microcephaly, short stature, and developmental delay: A case series and review of inverse brain growth phenotypes.

Authors:  Filomena Pirozzi; Benson Lee; Nicole Horsley; Deepika D Burkardt; William B Dobyns; John M Graham; Maria L Dentici; Claudia Cesario; Jens Schallner; Joseph Porrmann; Nataliya Di Donato; Pedro A Sanchez-Lara; Ghayda M Mirzaa
Journal:  Am J Med Genet A       Date:  2021-06-04       Impact factor: 2.802

8.  A combination of genetic and biochemical analyses for the diagnosis of PI3K-AKT-mTOR pathway-associated megalencephaly.

Authors:  Yutaka Negishi; Fuyuki Miya; Ayako Hattori; Yoshikazu Johmura; Motoo Nakagawa; Naoki Ando; Ikumi Hori; Takao Togawa; Kohei Aoyama; Kei Ohashi; Shinobu Fukumura; Seiji Mizuno; Ayako Umemura; Yoko Kishimoto; Nobuhiko Okamoto; Mitsuhiro Kato; Tatsuhiko Tsunoda; Mami Yamasaki; Yonehiro Kanemura; Kenjiro Kosaki; Makoto Nakanishi; Shinji Saitoh
Journal:  BMC Med Genet       Date:  2017-01-13       Impact factor: 2.103

9.  A PIK3R2 Mutation in Familial Temporal Lobe Epilepsy as a Possible Pathogenic Variant.

Authors:  Yishu Wang; Jing Peng; Shuwei Bai; Haojun Yu; Hong He; Chunxiang Fan; Yong Hao; Yangtai Guan
Journal:  Front Genet       Date:  2021-05-10       Impact factor: 4.599

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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