Literature DB >> 21248272

Does genotype determine phenotype? Sodium channel mutations in Dravet syndrome and GEFS+.

Ingrid E Scheffer.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2011        PMID： 21248272     DOI： 10.1212/WNL.0b013e31820d8b51

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


× No keyword cloud information.
  6 in total

1.  Epilepsy. Genetics of early-onset epilepsy with encephalopathy.

Authors:  Rima Nabbout; Olivier Dulac
Journal:  Nat Rev Neurol       Date:  2012-01-31       Impact factor: 42.937

2.  Phenotypic Variability from Benign Infantile Epilepsy to Ohtahara Syndrome Associated with a Novel Mutation in SCN2A.

Authors:  Steffen Syrbe; Boris S Zhorov; Astrid Bertsche; Matthias K Bernhard; Frauke Hornemann; Ulrike Mütze; Jessica Hoffmann; Konstanze Hörtnagel; Wieland Kiess; Franz W Hirsch; Johannes R Lemke; Andreas Merkenschlager
Journal:  Mol Syndromol       Date:  2016-07-19

Review 3.  The Diathesis-Epilepsy Model: How Past Events Impact the Development of Epilepsy and Comorbidities.

Authors:  Christophe Bernard
Journal:  Cold Spring Harb Perspect Med       Date:  2016-06-01       Impact factor: 6.915

4.  Dravet syndrome as epileptic encephalopathy: evidence from long-term course and neuropathology.

Authors:  Claudia B Catarino; Joan Y W Liu; Ioannis Liagkouras; Vaneesha S Gibbons; Robyn W Labrum; Rachael Ellis; Cathy Woodward; Mary B Davis; Shelagh J Smith; J Helen Cross; Richard E Appleton; Simone C Yendle; Jacinta M McMahon; Susannah T Bellows; Thomas S Jacques; Sameer M Zuberi; Matthias J Koepp; Lillian Martinian; Ingrid E Scheffer; Maria Thom; Sanjay M Sisodiya
Journal:  Brain       Date:  2011-06-29       Impact factor: 13.501

5.  Temperature-dependent changes in neuronal dynamics in a patient with an SCN1A mutation and hyperthermia induced seizures.

Authors:  C Peters; R E Rosch; E Hughes; P C Ruben
Journal:  Sci Rep       Date:  2016-09-01       Impact factor: 4.379

Review 6.  Epilepsy Genetics and Precision Medicine in Adults: A New Landscape for Developmental and Epileptic Encephalopathies.

Authors:  Álvaro Beltrán-Corbellini; Ángel Aledo-Serrano; Rikke S Møller; Eduardo Pérez-Palma; Irene García-Morales; Rafael Toledano; Antonio Gil-Nagel
Journal:  Front Neurol       Date:  2022-02-17       Impact factor: 4.003
  6 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.