Literature DB >> 28684954

Missense Is No Nonsense for Epileptic Encephalopathies.

Antonella Pirone, Chris Dulla.   

Abstract

Entities:  

Year:  2017        PMID： 28684954      PMCID： PMC5486429          DOI： 10.5698/1535-7511.17.3.171

Source DB:  PubMed          Journal:  Epilepsy Curr        ISSN： 1535-7511            Impact factor:   7.500


× No keyword cloud information.
  14 in total

Review 1.  GABA(A) receptor trafficking and its role in the dynamic modulation of neuronal inhibition.

Authors:  Tija C Jacob; Stephen J Moss; Rachel Jurd
Journal:  Nat Rev Neurosci       Date:  2008-05       Impact factor: 34.870

2.  Exome sequencing of ion channel genes reveals complex profiles confounding personal risk assessment in epilepsy.

Authors:  Tara Klassen; Caleb Davis; Alica Goldman; Dan Burgess; Tim Chen; David Wheeler; John McPherson; Traci Bourquin; Lora Lewis; Donna Villasana; Margaret Morgan; Donna Muzny; Richard Gibbs; Jeffrey Noebels
Journal:  Cell       Date:  2011-06-24       Impact factor: 41.582

3.  Truncation of the GABA(A)-receptor gamma2 subunit in a family with generalized epilepsy with febrile seizures plus.

Authors:  Louise A Harkin; David N Bowser; Leanne M Dibbens; Rita Singh; Fiona Phillips; Robyn H Wallace; Michaella C Richards; David A Williams; John C Mulley; Samuel F Berkovic; Ingrid E Scheffer; Steven Petrou
Journal:  Am J Hum Genet       Date:  2001-12-17       Impact factor: 11.025

Review 4.  Mutations in GABAA receptor subunits associated with genetic epilepsies.

Authors:  Robert L Macdonald; Jing-Qiong Kang; Martin J Gallagher
Journal:  J Physiol       Date:  2010-03-22       Impact factor: 5.182

5.  Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation.

Authors:  Linda S Weaving; John Christodoulou; Sarah L Williamson; Kathie L Friend; Olivia L D McKenzie; Hayley Archer; Julie Evans; Angus Clarke; Gregory J Pelka; Patrick P L Tam; Catherine Watson; Hooshang Lahooti; Carolyn J Ellaway; Bruce Bennetts; Helen Leonard; Jozef Gécz
Journal:  Am J Hum Genet       Date:  2004-10-18       Impact factor: 11.025

6.  The GABRG2 nonsense mutation, Q40X, associated with Dravet syndrome activated NMD and generated a truncated subunit that was partially rescued by aminoglycoside-induced stop codon read-through.

Authors:  Xuan Huang; Mengnan Tian; Ciria C Hernandez; Ningning Hu; Robert L Macdonald
Journal:  Neurobiol Dis       Date:  2012-06-30       Impact factor: 5.996

7.  GABAA receptor biogenesis is impaired by the γ2 subunit febrile seizure-associated mutation, GABRG2(R177G).

Authors:  Emily Todd; Katharine N Gurba; Emmanuel J Botzolakis; Aleksandar K Stanic; Robert L Macdonald
Journal:  Neurobiol Dis       Date:  2014-05-27       Impact factor: 5.996

8.  The spectrum of SCN1A-related infantile epileptic encephalopathies.

Authors:  Louise A Harkin; Jacinta M McMahon; Xenia Iona; Leanne Dibbens; James T Pelekanos; Sameer M Zuberi; Lynette G Sadleir; Eva Andermann; Deepak Gill; Kevin Farrell; Mary Connolly; Thorsten Stanley; Michael Harbord; Frederick Andermann; Jing Wang; Sat Dev Batish; Jeffrey G Jones; William K Seltzer; Alison Gardner; Grant Sutherland; Samuel F Berkovic; John C Mulley; Ingrid E Scheffer
Journal:  Brain       Date:  2007-03       Impact factor: 13.501

9.  The human epilepsy mutation GABRG2(Q390X) causes chronic subunit accumulation and neurodegeneration.

Authors:  Jing-Qiong Kang; Wangzhen Shen; Chengwen Zhou; Dong Xu; Robert L Macdonald
Journal:  Nat Neurosci       Date:  2015-05-25       Impact factor: 24.884

10.  De novo mutations in epileptic encephalopathies.

Authors:  Andrew S Allen; Samuel F Berkovic; Patrick Cossette; Norman Delanty; Dennis Dlugos; Evan E Eichler; Michael P Epstein; Tracy Glauser; David B Goldstein; Yujun Han; Erin L Heinzen; Yuki Hitomi; Katherine B Howell; Michael R Johnson; Ruben Kuzniecky; Daniel H Lowenstein; Yi-Fan Lu; Maura R Z Madou; Anthony G Marson; Heather C Mefford; Sahar Esmaeeli Nieh; Terence J O'Brien; Ruth Ottman; Slavé Petrovski; Annapurna Poduri; Elizabeth K Ruzzo; Ingrid E Scheffer; Elliott H Sherr; Christopher J Yuskaitis; Bassel Abou-Khalil; Brian K Alldredge; Jocelyn F Bautista; Samuel F Berkovic; Alex Boro; Gregory D Cascino; Damian Consalvo; Patricia Crumrine; Orrin Devinsky; Dennis Dlugos; Michael P Epstein; Miguel Fiol; Nathan B Fountain; Jacqueline French; Daniel Friedman; Eric B Geller; Tracy Glauser; Simon Glynn; Sheryl R Haut; Jean Hayward; Sandra L Helmers; Sucheta Joshi; Andres Kanner; Heidi E Kirsch; Robert C Knowlton; Eric H Kossoff; Rachel Kuperman; Ruben Kuzniecky; Daniel H Lowenstein; Shannon M McGuire; Paul V Motika; Edward J Novotny; Ruth Ottman; Juliann M Paolicchi; Jack M Parent; Kristen Park; Annapurna Poduri; Ingrid E Scheffer; Renée A Shellhaas; Elliott H Sherr; Jerry J Shih; Rani Singh; Joseph Sirven; Michael C Smith; Joseph Sullivan; Liu Lin Thio; Anu Venkat; Eileen P G Vining; Gretchen K Von Allmen; Judith L Weisenberg; Peter Widdess-Walsh; Melodie R Winawer
Journal:  Nature       Date:  2013-08-11       Impact factor: 49.962
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.