Codon optimality-mediated mRNA degradation: Linking translational elongation to mRNA stability

H Bae, J Coller - Molecular cell, 2022 - cell.com
Messenger RNA (mRNA) translation by the ribosome represents the final step of a
complicated molecular dance from DNA to protein. Although classically considered a …

Cognitive impairment in epilepsy: the role of network abnormalities

GL Holmes - Epileptic Disorders, 2015 - Wiley Online Library
The challenges to individuals with epilepsy extend far beyond the seizures. Co‐morbidities
in epilepsy are very common and are often more problematic to individuals than the seizures …

Drug screening in Scn1a zebrafish mutant identifies clemizole as a potential Dravet syndrome treatment

SC Baraban, MT Dinday, GA Hortopan - Nature communications, 2013 - nature.com
Dravet syndrome is a catastrophic pediatric epilepsy with severe intellectual disability,
impaired social development and persistent drug-resistant seizures. One of its primary …

RNA-binding proteins balance brain function in health and disease

R Schieweck, J Ninkovic… - Physiological reviews, 2021 - journals.physiology.org
Posttranscriptional gene expression including splicing, RNA transport, translation, and RNA
decay provides an important regulatory layer in many if not all molecular pathways …

[HTML][HTML] From genotype to phenotype in Dravet disease

S Gataullina, O Dulac - Seizure, 2017 - Elsevier
Dravet syndrome combines clonic generalized, focal or unilateral seizures, beginning within
the first year of life, often triggered by hyperthermia whatever its cause, including pertussis …

Therapeutic approaches to genetic ion channelopathies and perspectives in drug discovery

P Imbrici, A Liantonio, GM Camerino… - Frontiers in …, 2016 - frontiersin.org
In the human genome more than 400 genes encode ion channels, which are
transmembrane proteins mediating ion fluxes across membranes. Being expressed in all …

[HTML][HTML] Improved everyday executive functioning following profound reduction in seizure frequency with fenfluramine: analysis from a phase 3 long-term extension …

KI Bishop, PK Isquith, GA Gioia, AR Gammaitoni… - Epilepsy & Behavior, 2021 - Elsevier
Abstract Objective Individuals with Dravet syndrome (DS) experience frequent
pharmacoresistant seizures beginning in infancy. Most exhibit poor neurodevelopmental …

Dravet syndrome: a review of current management

JW Wheless, SP Fulton, BD Mudigoudar - Pediatric neurology, 2020 - Elsevier
Dravet syndrome is a debilitating epileptic encephalopathy of childhood with few treatment
options available in the United States before 2018. In the modern era, new genetic testing …

Low‐dose fenfluramine significantly reduces seizure frequency in Dravet syndrome: a prospective study of a new cohort of patients

A Schoonjans, BP Paelinck, F Marchau… - European journal of …, 2017 - Wiley Online Library
Background and purpose Dravet syndrome (DS) is a severe, drug‐resistant epilepsy.
Fenfluramine has been reported to have a long‐term clinically meaningful anticonvulsive …

Tau reduction prevents disease in a mouse model of D ravet syndrome

AL Gheyara, R Ponnusamy, B Djukic… - Annals of …, 2014 - Wiley Online Library
Objective Reducing levels of the microtubule‐associated protein tau has shown promise as
a potential treatment strategy for diseases with secondary epileptic features such as …