Literature DB >> 20047903

Copy number variants--an unexpected risk factor for the idiopathic generalized epilepsies.

Ingrid E Scheffer1, Samuel F Berkovic.   

Abstract

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Mesh：

Year:  2010        PMID： 20047903     DOI： 10.1093/brain/awp332

Source DB:  PubMed          Journal:  Brain        ISSN： 0006-8950            Impact factor:   13.501


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  9 in total

1.  Strain differences in seizure-induced cell death following pilocarpine-induced status epilepticus.

Authors:  P Elyse Schauwecker
Journal:  Neurobiol Dis       Date:  2011-08-22       Impact factor: 5.996

2.  Genetic and Phenotype Analysis of a Chinese Cohort of Infants and Children With Epilepsy.

Authors:  Zhang Chuan; Cai Ruikun; Li Qian; Mei Shiyue; Hao Shengju; Yuan Yong; Li Haibo; Xiao Neng; Zhao Yong; Xue Huiqin; Wang Weijia; Hui Ling; Zhou Bingbo; Qinghua Zhang; Wang Yan; Cao Zongfu; Ma Xu
Journal:  Front Genet       Date:  2022-04-27       Impact factor: 4.772

3.  The epilepsy phenome/genome project.

Authors:  Bassel Abou-Khalil; Brian Alldredge; Jocelyn Bautista; Sam Berkovic; Judith Bluvstein; Alex Boro; Gregory Cascino; Damian Consalvo; Sabrina Cristofaro; Patricia Crumrine; Orrin Devinsky; Dennis Dlugos; Michael Epstein; Robyn Fahlstrom; Miguel Fiol; Nathan Fountain; Kristen Fox; Jacqueline French; Catharine Freyer Karn; Daniel Friedman; Eric Geller; Tracy Glauser; Simon Glynn; Kevin Haas; Sheryl Haut; Jean Hayward; Sandra Helmers; Sucheta Joshi; Andres Kanner; Heidi Kirsch; Robert Knowlton; Eric Kossoff; Rachel Kuperman; Ruben Kuzniecky; Daniel Lowenstein; Shannon McGuire; Paul Motika; Gerard Nesbitt; Edward Novotny; Ruth Ottman; Juliann Paolicchi; Jack Parent; Kristen Park; Annapurna Poduri; Neil Risch; Lynette Sadleir; Ingrid Scheffer; Renee Shellhaas; Elliott Sherr; Jerry J Shih; Shlomo Shinnar; Rani Singh; Joseph Sirven; Michael Smith; Joe Sullivan; Liu Lin Thio; Anu Venkat; Eileen Vining; Gretchen von Allmen; Judith Weisenberg; Peter Widdess-Walsh; Melodie Winawer
Journal:  Clin Trials       Date:  2013-07-01       Impact factor: 2.486

Review 4.  The molecular biology of genetic-based epilepsies.

Authors:  Hao Deng; Xiaofei Xiu; Zhi Song
Journal:  Mol Neurobiol       Date:  2013-08-10       Impact factor: 5.590

5.  Epi4K: gene discovery in 4,000 genomes.

Authors: 
Journal:  Epilepsia       Date:  2012-05-29       Impact factor: 5.864

6.  Genomic microdeletions associated with epilepsy: not a contraindication to resective surgery.

Authors:  Claudia B Catarino; Dalia Kasperavičiūtė; Maria Thom; Gianpiero L Cavalleri; Lillian Martinian; Erin L Heinzen; Thomas Dorn; Thomas Grunwald; Elijah Chaila; Chantal Depondt; Günter Krämer; Norman Delanty; David B Goldstein; Sanjay M Sisodiya
Journal:  Epilepsia       Date:  2011-06-02       Impact factor: 5.864

Review 7.  The role of T-type calcium channel genes in absence seizures.

Authors:  Yucai Chen; William Davis Parker; Keling Wang
Journal:  Front Neurol       Date:  2014-05-09       Impact factor: 4.003

8.  Susceptibility to seizure-induced excitotoxic cell death is regulated by an epistatic interaction between Chr 18 (Sicd1) and Chr 15 (Sicd2) loci in mice.

Authors:  Paula Elyse Schauwecker
Journal:  PLoS One       Date:  2014-10-15       Impact factor: 3.240

9.  Paradoxical worsening of seizure activity with pregabalin in an adult with isodicentric 15 (IDIC-15) syndrome involving duplications of the GABRB3, GABRA5 and GABRG3 genes.

Authors:  Alessandro Di Rocco; Andrea Loggini; Maja Di Rocco; Pietro Di Rocco; Roger P Rossi; Giorgio Gimelli; Carl Bazil
Journal:  BMC Neurol       Date:  2013-05-10       Impact factor: 2.474
  9 in total

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