Generation of D1-1 TALEN isogenic control cell line from Dravet syndrome patient iPSCs using TALEN-mediated editing of the SCN1A gene.
Sign Up to like & getrecommendations! Published in 2018 at "Stem cell research"
DOI: 10.1016/j.scr.2018.01.036
Abstract: Dravet syndrome (DS) is an infantile epileptic encephalopathy mainly caused by de novo mutations in the SCN1A gene encoding the α1 subunit of the voltage-gated sodium channel Nav1.1. As an in vitro model of this… read more here.
Keywords: line; control cell; scn1a gene; dravet syndrome ... See more keywords
Scn1a gene reactivation after symptom onset rescues pathological phenotypes in a mouse model of Dravet syndrome
Sign Up to like & getrecommendations! Published in 2022 at "Nature Communications"
DOI: 10.1038/s41467-021-27837-w
Abstract: Dravet syndrome is a severe epileptic encephalopathy caused primarily by haploinsufficiency of the SCN1A gene. Repetitive seizures can lead to endurable and untreatable neurological deficits. Whether this severe pathology is reversible after symptom onset remains… read more here.
Keywords: symptom onset; scn1a gene; gene; dravet syndrome ... See more keywords
The lack of influence of IVS5-91 G>A polymorphism of the SCN1A gene on efficacy of lamotrigine in patients with focal epilepsy
Sign Up to like & getrecommendations! Published in 2019 at "Neurological Research"
DOI: 10.1080/01616412.2019.1635321
Abstract: ABSTRACT Background: IVS5-91G>A (rs3812718) polymorphism of the sodium voltage-gated channel alpha subunit 1 (SCN1A) gene has been associated with inadequate responsiveness to common antiepileptic drugs which act as sodium channel blockers. This study was performed… read more here.
Keywords: focal epilepsy; ltg; efficacy; scn1a gene ... See more keywords
Cell-Selective Adeno-Associated Virus-Mediated SCN1A Gene Regulation Therapy Rescues Mortality and Seizure Phenotypes in a Dravet Syndrome Mouse Model and Is Well Tolerated in Nonhuman Primates
Sign Up to like & getrecommendations! Published in 2022 at "Human Gene Therapy"
DOI: 10.1089/hum.2022.037
Abstract: Dravet syndrome (DS) is a developmental and epileptic encephalopathy caused by monoallelic loss-of-function variants in the SCN1A gene. SCN1A encodes for the alpha subunit of the voltage-gated type I sodium channel (NaV1.1), the primary voltage-gated… read more here.
Keywords: aav9 regaba; scn1a gene; regaba etfscn1a;
Vagus Nerve Stimulation in Intractable Epilepsy Associated With SCN1A Gene Abnormalities
Sign Up to like & getrecommendations! Published in 2017 at "Journal of Child Neurology"
DOI: 10.1177/0883073816687221
Abstract: Mutations in the SCN1A gene cause a spectrum of epilepsy syndromes. There are 2 syndromes that are on the severe end of this spectrum. The classic severe form, Dravet syndrome, is an epileptic encephalopathy of… read more here.
Keywords: epilepsy; nerve stimulation; intractable epilepsy; vagus nerve ... See more keywords
Extending the Phenotype Related to SCN1A Gene: Arthrogryposis, Movement Disorders, and Malformations of Cortical Development
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Child Neurology"
DOI: 10.1177/08830738211072694
Abstract: Background Expand the knowledge about the clinical phenotypes associated with pathogenic or likely pathogenic variants in the SCN1A gene. Methods The study was carried out in 15 patients with SCN1A variants. The complete phenotype of… read more here.
Keywords: phenotype; malformations cortical; cortical development; scn1a gene ... See more keywords