Article

Interneuron dysfunction in a new knock-in mouse model of SCN1A GEFS+

2019-11-21

Abstract excerpt

Advances in genome sequencing have identified over 1300 mutations in the SCN1A sodium channel gene that result in genetic epilepsies. However, how individual mutations within SCN1A produce seizures remains elusive for most mutations. Previous work from our lab has shown that the K1270T (KT) mutation, which is linked to GEFS+ (Genetic Epilepsy with Febrile Seizure plus) in humans, causes reduced firing of GABAergic...

Topics

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

Identifiers and source

Literature Corpus work: af649a34-195e-5809-9b38-3afab89f48d9
DOI: 10.1101/849240

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Interneuron dysfunction in a new knock-in mouse model of SCN1A GEFS+DOI 10.1101/849240Read

Interneuron Dysfunction in a New Mouse Model of SCN1A GEFS.Semantic proximity Read

Seizure Phenotype and Underlying Cellular Defects in Drosophila Knock-In Models of DS (R1648C) and GEFS+ (R1648H) SCN1A Epilepsy.Semantic proximity Read

A knock-in model of human epilepsy in Drosophila reveals a novel cellular mechanism associated with heat-induced seizure.Semantic proximity Read

Knock-in model of Dravet syndrome reveals a constitutive and conditional reduction in sodium current.Semantic proximity Read

A BAC transgenic mouse model reveals neuron subtype-specific effects of a Generalized Epilepsy with Febrile Seizures Plus (GEFS+) mutation.Semantic proximity Read

Novel Gain of Function Mouse Model of KCNT1-Related EpilepsySemantic proximity Read

Epilepsy and premature mortality driven by inhibitory neuron dysfunction in a mouse model of <i>SCN1A</i> gain-of-function neurodevelopmental disorderSemantic proximity Read

Neuronal voltage-gated ion channels are genetic modifiers of generalized epilepsy with febrile seizures plus.Semantic proximity Read

NaV1.1 channels and epilepsy.Semantic proximity Read

Sodium channel SCN1A and epilepsy: mutations and mechanisms.Semantic proximity Read

Comparisons of dual isogenic human iPSC pairs identify functional alterations directly caused by an epilepsy associated <i>SCN1A</i> mutationSemantic proximity Read

Comparisons of dual isogenic human iPSC pairs identify functional alterations directly caused by an epilepsy associated SCN1A mutation.Semantic proximity Read