Rescuable folding defective NaV1.1 (SCN1A) mutants in epilepsy: Properties, occurrence, and novel rescuing strategy with peptides targeted to the endoplasmic reticulum-Reference-Cited by-同舟云学术

Rescuable folding defective NaV1.1 (SCN1A) mutants in epilepsy: Properties, occurrence, and novel rescuing strategy with peptides targeted to the endoplasmic reticulum

Published:2015-03 Issue: Volume:75 Page:100-114
ISSN:0969-9961
Container-title:Neurobiology of Disease
language:en
Short-container-title:Neurobiology of Disease

Author:

Bechi Giulia,Rusconi Raffaella,Cestèle Sandrine,Striano Pasquale,Franceschetti Silvana,Mantegazza Massimo

Funder

European Integrated Projects

Investissements d'Avenir-Laboratory of Excellence-France

International Project for Scientific Cooperation (PICS)-CNRS-France

Publisher

Elsevier BV

Subject

Neurology

Reference57 articles.

1. A method and server for predicting damaging missense mutations;Adzhubei;Nat. Methods,2010

2. Most LQT2 mutations reduce Kv11.1 (hERG) current by a class 2 (trafficking-deficient) mechanism;Anderson;Circulation,2006

3. Two novel SCN1A missense mutations in generalized epilepsy with febrile seizures plus;Annesi;Epilepsia,2003

4. An epilepsy mutation in the sodium channel SCN1A that decreases channel excitability;Barela;J. Neurosci.,2006

5. Pure haploinsufficiency for Dravet syndrome Na(V)1.1 (SCN1A) sodium channel truncating mutations;Bechi;Epilepsia,2012

Cited by 43 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Identification of novel and de novo variant in the SCN1A gene confirms Dravet syndrome in Moroccan child: a case report;Molecular Biology Reports;2024-01-28

2. Voltage‐gated sodium channels in genetic epilepsy: up and down of excitability;Journal of Neurochemistry;2023-08-31

3. Systematic review of genome wide association studies (GWAS) of epilepsy identifies common risk variants and associated genes;2023-08-31

4. Bioinformatics and network pharmacology analysis of drug targets and mechanisms related to the comorbidity of epilepsy and migraine;Epilepsy Research;2023-01

5. Developmental and epileptic encephalopathies: from genetic heterogeneity to phenotypic continuum;Physiological Reviews;2023-01-01