Article

Antisense oligonucleotide therapy for SCN2A gain-of-function epilepsy

2020-09-11

Abstract excerpt

The clinical spectrum associated with SCN2A de novo mutations (DNMs) continues to expand and includes autism spectrum disorder with or without seizures, in addition to early and late seizure onset developmental and epileptic encephalopathies (DEEs). Recent biophysical studies on SCN2A variants suggest that the majority of early seizure onset DEE DNMs cause gain of function. Gain of function in SCN2A, the principa...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 92bf5397-920b-5102-96d2-6c0142e03ced
DOI: 10.1101/2020.09.09.289900

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Antisense oligonucleotide therapy for SCN2A gain-of-function epilepsyDOI 10.1101/2020.09.09.289900Read

Antisense oligonucleotide therapy reduces seizures and extends life span in an SCN2A gain-of-function epilepsy model.Semantic proximity Read

Individualized Antisense Oligonucleotides for SCN2A Related Developmental Epileptic EncephalopathySemantic proximity Read

Individualized antisense oligonucleotides for SCN2A-related developmental epileptic encephalopathy.Semantic proximity Read

Antisense oligonucleotide therapy for <i>KCNT1</i> encephalopathySemantic proximity Read

Scn8a Antisense Oligonucleotide Is Protective in Mouse Models of SCN8A Encephalopathy and Dravet Syndrome.Semantic proximity Read

Antisense oligonucleotide therapy for KCNT1 encephalopathySemantic proximity Read

Antisense oligonucleotides as a precision therapy for developmental and epileptic encephalopathiesSemantic proximity Read

Long-Term Downregulation of the Sodium Channel Gene Scn8a Is Therapeutic in Mouse Models of SCN8A Epilepsy.Semantic proximity Read

All our knowledge begins with the antisenses.Semantic proximity Read

A splice-switching antisense oligonucleotide approach for pediatric genetic epilepsiesSemantic proximity Read

Upregulation of Haploinsufficient Gene Expression in the Brain by Targeting a Long Non-coding RNA Improves Seizure Phenotype in a Model of Dravet Syndrome.Semantic proximity Read

Base editing rescues seizures and sudden death in a SCN8A mutation-associated developmental epileptic encephalopathy model.Semantic proximity Read