Identifying mutations in epilepsy genes: Impact on treatment selection-Reference-Cited by-同舟云学术

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Identifying mutations in epilepsy genes: Impact on treatment selection

Published:2019-05 Issue: Volume:152 Page:18-30
ISSN:0920-1211
Container-title:Epilepsy Research
language:en
Short-container-title:Epilepsy Research

Author:

Perucca Piero,Perucca Emilio

Funder

an Early Career Fellowship from the National Health and Medical Research Council

Viertel Clinical Investigator Award from the Sylvia and Charles Viertel Charitable Foundation

Publisher

Elsevier BV

Subject

Neurology (clinical),Neurology

Reference137 articles.

1. Does age affect response to quinidine in patients with KCNT1 mutations? Report of three new cases and review of the literature;Abdelnour;Seizure,2018

2. Epilepsy associated GRIN2A mutations reduce NMDA receptor trafficking and agonist potency–molecular profiling and functional rescue;Addis;Sci. Rep.,2017

3. De novo gain-of-function variants in KCNT2 as a novel cause of developmental and epileptic encephalopathy;Ambrosino;Ann. Neurol.,2018

4. A comprehensive approach to identifying repurposed drugs to treat SCN8A epilepsy;Atkin;Epilepsia,2018

5. The novel sodium channel modulator GS-458967 (GS967) is an effective treatment in a mouse model of SCN8A encephalopathy;Baker;Epilepsia,2018

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2. Characterization of 13 Novel Genetic Variants in Genes Associated with Epilepsy: Implications for Targeted Therapeutic Strategies;Molecular Diagnosis & Therapy;2024-07-14

3. Exploring the correlation between serum α-synuclein and abnormal electroencephalography patterns in children with epilepsy, as well as electroencephalographic discharge index;International Journal of Neuroscience;2024-04

4. Comparing the frequency of variants of uncertain significance (VUS) between ancestry groups in a paediatric epilepsy cohort;Journal of Medical Genetics;2024-03-07

5. A small-molecule activation mechanism that directly opens the KCNQ2 channel;Nature Chemical Biology;2024-01-02

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