Impaired excitability of somatostatin-and parvalbumin-expressing cortical interneurons in a mouse model of Dravet syndrome
C Tai, Y Abe, RE Westenbroek…�- Proceedings of the�…, 2014 - National Acad Sciences
Haploinsufficiency of the voltage-gated sodium channel NaV1. 1 causes Dravet syndrome,
an intractable developmental epilepsy syndrome with seizure onset in the first year of life�…
an intractable developmental epilepsy syndrome with seizure onset in the first year of life�…
A transient developmental window of fast-spiking interneuron dysfunction in a mouse model of Dravet syndrome
Dravet syndrome is a severe, childhood-onset epilepsy largely due to heterozygous loss-of-
function mutation of the gene SCN1A, which encodes the type 1 neuronal voltage-gated�…
function mutation of the gene SCN1A, which encodes the type 1 neuronal voltage-gated�…
Specific deletion of NaV1.1 sodium channels in inhibitory interneurons causes seizures and premature death in a mouse model of Dravet syndrome
CS Cheah, FH Yu, RE Westenbroek…�- Proceedings of the�…, 2012 - National Acad Sciences
Heterozygous loss-of-function mutations in the brain sodium channel NaV1. 1 cause Dravet
syndrome (DS), a pharmacoresistant infantile-onset epilepsy syndrome with comorbidities of�…
syndrome (DS), a pharmacoresistant infantile-onset epilepsy syndrome with comorbidities of�…
Dissecting the phenotypes of Dravet syndrome by gene deletion
Neurological and psychiatric syndromes often have multiple disease traits, yet it is unknown
how such multi-faceted deficits arise from single mutations. Haploinsufficiency of the voltage�…
how such multi-faceted deficits arise from single mutations. Haploinsufficiency of the voltage�…
[HTML][HTML] Developmentally regulated impairment of parvalbumin interneuron synaptic transmission in an experimental model of Dravet syndrome
Dravet syndrome is a neurodevelopmental disorder characterized by epilepsy, intellectual
disability, and sudden death due to pathogenic variants in SCN1A with loss of function of the�…
disability, and sudden death due to pathogenic variants in SCN1A with loss of function of the�…
Dravet syndrome: a sodium channel interneuronopathy
WA Catterall�- Ion Channels in Health and Disease, 2016 - Elsevier
Voltage-gated sodium channels initiate action potentials (APs) in brain neurons, and sodium
channel blockers are used to treat epilepsy. Heterozygous loss-of-function mutations in Na V�…
channel blockers are used to treat epilepsy. Heterozygous loss-of-function mutations in Na V�…
Genetic background modulates impaired excitability of inhibitory neurons in a mouse model of Dravet syndrome
M Rubinstein, RE Westenbroek, HY Frank…�- Neurobiology of�…, 2015 - Elsevier
Dominant loss-of-function mutations in voltage-gated sodium channel Na V 1.1 cause
Dravet Syndrome, an intractable childhood-onset epilepsy. Na V 1.1+/− Dravet Syndrome�…
Dravet Syndrome, an intractable childhood-onset epilepsy. Na V 1.1+/− Dravet Syndrome�…
Nav1. 1 haploinsufficiency in excitatory neurons ameliorates seizure-associated sudden death in a mouse model of Dravet syndrome
I Ogiwara, T Iwasato, H Miyamoto…�- Human molecular�…, 2013 - academic.oup.com
Dravet syndrome is a severe epileptic encephalopathy mainly caused by heterozygous
mutations in the SCN1A gene encoding a voltage-gated sodium channel Nav1. 1. We�…
mutations in the SCN1A gene encoding a voltage-gated sodium channel Nav1. 1. We�…
Insights into pathophysiology and therapy from a mouse model of Dravet syndrome
JC Oakley, F Kalume, WA Catterall�- Epilepsia, 2011 - Wiley Online Library
Mutations in voltage‐gated sodium channels are associated with epilepsy syndromes with a
wide range of severity. Complete loss of function in the Nav1. 1 channel encoded by the�…
wide range of severity. Complete loss of function in the Nav1. 1 channel encoded by the�…
[HTML][HTML] Developmental alterations in firing properties of hippocampal CA1 inhibitory and excitatory neurons in a mouse model of Dravet syndrome
Dravet syndrome (Dravet) is a rare, severe childhood-onset epilepsy, caused by
heterozygous de novo mutations in the SCN1A gene, encoding for the alpha subunit of the�…
heterozygous de novo mutations in the SCN1A gene, encoding for the alpha subunit of the�…
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