SCHORGE S.

Last name: SCHORGE S.

2019 (v1)

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dCas9-Based Scn1a Gene Activation Restores Inhibitory Interneuron Excitability and Attenuates Seizures in Dravet Syndrome Mice

Colasante G. Lignani G. Brusco S.

Colasante et al. exploit an activatory CRISPR-targeting Scn1a gene promoter as a therapeutic strategy to rescue Scn1a haploinsufficiency in a mouse model of Dravet syndrome and restore physiological levels of its gene product, the Nav1.1 voltage-gated sodium channel.

Uploaded on: April 14, 2023
2014 (v1)

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A common SCN1A splice-site polymorphism modifies the effect of carbamazepine on cortical excitability - A pharmacogenetic transcranial magnetic stimulation study

Menzler K. Hermsen A. Balkenhol K.

Objective SCN1A encodes the alpha subunit of the voltage-gated sodium channel and plays a crucial role in several epilepsy syndromes. The common SCN1A splice-site polymorphism rs3812718 (IVS5N+5 G>A) might contribute to the pathophysiology underlying genetic generalized epilepsies and is associated with electrophysiologic properties of the...

Uploaded on: March 27, 2023
2018 (v1)

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Rare coding variants in genes encoding GABAA receptors in genetic generalised epilepsies: an exome-based case-control study

May P. Girard S. Harrer M.

Background: Genetic generalised epilepsy is the most common type of inherited epilepsy. Despite a high concordance rate of 80% in monozygotic twins, the genetic background is still poorly understood. We aimed to investigate the burden of rare genetic variants in genetic generalised epilepsy. Methods: For this exome-based case-control study, we...

Uploaded on: April 14, 2023

SCHORGE S.

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