Type |
Details |
Score |
Gene |
Type: |
gene |
Organism: |
human |
|
•
•
•
•
•
|
Gene |
Type: |
gene |
Organism: |
frog, western clawed |
|
•
•
•
•
•
|
Gene |
|
•
•
•
•
•
|
Gene |
Type: |
gene |
Organism: |
dog, domestic |
|
•
•
•
•
•
|
Gene |
Type: |
gene |
Organism: |
chimpanzee |
|
•
•
•
•
•
|
Gene |
Type: |
gene |
Organism: |
cattle |
|
•
•
•
•
•
|
Gene |
Type: |
gene |
Organism: |
chicken |
|
•
•
•
•
•
|
Gene |
Type: |
gene |
Organism: |
macaque, rhesus |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Publication |
First Author: |
Reiber M |
Year: |
2022 |
Journal: |
Epilepsy Behav |
Title: |
Behavioral phenotyping of young Scn1a haploinsufficient mice. |
Volume: |
136 |
|
Pages: |
108903 |
|
•
•
•
•
•
|
Publication |
First Author: |
Mavashov A |
Year: |
2023 |
Journal: |
Front Cell Neurosci |
Title: |
Heat-induced seizures, premature mortality, and hyperactivity in a novel Scn1a nonsense model for Dravet syndrome. |
Volume: |
17 |
|
Pages: |
1149391 |
|
•
•
•
•
•
|
Gene |
Type: |
gene |
Organism: |
human |
|
•
•
•
•
•
|
Publication |
First Author: |
Dutton SBB |
Year: |
2017 |
Journal: |
Exp Neurol |
Title: |
Early-life febrile seizures worsen adult phenotypes in Scn1a mutants. |
Volume: |
293 |
|
Pages: |
159-171 |
|
•
•
•
•
•
|
Publication |
First Author: |
Das A |
Year: |
2021 |
Journal: |
eNeuro |
Title: |
Interneuron Dysfunction in a New Mouse Model of SCN1A GEFS. |
Volume: |
8 |
Issue: |
2 |
|
|
•
•
•
•
•
|
Publication |
First Author: |
Ohno Y |
Year: |
2011 |
Journal: |
Neurobiol Dis |
Title: |
Scn1a missense mutation causes limbic hyperexcitability and vulnerability to experimental febrile seizures. |
Volume: |
41 |
Issue: |
2 |
Pages: |
261-9 |
|
•
•
•
•
•
|
Publication |
First Author: |
Hill SF |
Year: |
2023 |
Journal: |
Front Neurosci |
Title: |
Reduction of Kcnt1 is therapeutic in mouse models of SCN1A and SCN8A epilepsy. |
Volume: |
17 |
|
Pages: |
1282201 |
|
•
•
•
•
•
|
Publication |
First Author: |
Martin MS |
Year: |
2010 |
Journal: |
J Biol Chem |
Title: |
Altered function of the SCN1A voltage-gated sodium channel leads to gamma-aminobutyric acid-ergic (GABAergic) interneuron abnormalities. |
Volume: |
285 |
Issue: |
13 |
Pages: |
9823-34 |
|
•
•
•
•
•
|
Publication |
First Author: |
Haigh JL |
Year: |
2021 |
Journal: |
Genome Med |
Title: |
Deletion of a non-canonical regulatory sequence causes loss of Scn1a expression and epileptic phenotypes in mice. |
Volume: |
13 |
Issue: |
1 |
Pages: |
69 |
|
•
•
•
•
•
|
Publication |
First Author: |
Sawyer NT |
Year: |
2016 |
Journal: |
Genes Brain Behav |
Title: |
Scn1a dysfunction alters behavior but not the effect of stress on seizure response. |
Volume: |
15 |
Issue: |
3 |
Pages: |
335-47 |
|
•
•
•
•
•
|
Publication |
First Author: |
Ricobaraza A |
Year: |
2019 |
Journal: |
Sci Rep |
Title: |
Epilepsy and neuropsychiatric comorbidities in mice carrying a recurrent Dravet syndrome SCN1A missense mutation. |
Volume: |
9 |
Issue: |
1 |
Pages: |
14172 |
|
•
•
•
•
•
|
Publication |
First Author: |
Quinn S |
Year: |
2023 |
Journal: |
Front Pharmacol |
Title: |
Acute effect of antiseizure drugs on background oscillations in Scn1a (A1783V) Dravet syndrome mouse model. |
Volume: |
14 |
|
Pages: |
1118216 |
|
•
•
•
•
•
|
Publication |
First Author: |
Di Berardino C |
Year: |
2024 |
Journal: |
Brain |
Title: |
Temporal manipulation of the Scn1a gene reveals its essential role in adult brain function. |
Volume: |
147 |
Issue: |
4 |
Pages: |
1216-1230 |
|
•
•
•
•
•
|
Publication |
First Author: |
Valassina N |
Year: |
2022 |
Journal: |
Nat Commun |
Title: |
Scn1a gene reactivation after symptom onset rescues pathological phenotypes in a mouse model of Dravet syndrome. |
Volume: |
13 |
Issue: |
1 |
Pages: |
161 |
|
•
•
•
•
•
|
Publication |
First Author: |
Salgueiro-Pereira AR |
Year: |
2019 |
Journal: |
Neurobiol Dis |
Title: |
A two-hit story: Seizures and genetic mutation interaction sets phenotype severity in SCN1A epilepsies. |
Volume: |
125 |
|
Pages: |
31-44 |
|
•
•
•
•
•
|
Publication |
First Author: |
Lin GW |
Year: |
2017 |
Journal: |
Neuropharmacology |
Title: |
GAPDH-mediated posttranscriptional regulations of sodium channel Scn1a and Scn3a genes under seizure and ketogenic diet conditions. |
Volume: |
113 |
Issue: |
Pt A |
Pages: |
480-489 |
|
•
•
•
•
•
|
Publication |
First Author: |
Auffenberg E |
Year: |
2021 |
Journal: |
J Clin Invest |
Title: |
Hyperexcitable interneurons trigger cortical spreading depression in an Scn1a migraine model. |
Volume: |
131 |
Issue: |
21 |
|
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:6182849 |
Assay Type: |
RNA in situ |
Annotation Date: |
2018-07-25 |
Strength: |
Present |
Sex: |
Not Specified |
Emaps: |
EMAPS:1689419 |
Pattern: |
Not Specified |
Stage: |
TS19 |
Assay Id: |
MGI:6191257 |
Age: |
embryonic day 11.5 |
|
|
Specimen Label: |
Table S2 - E11.5 - Scn1a |
Detected: |
true |
Specimen Num: |
1 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:6182849 |
Assay Type: |
RNA in situ |
Annotation Date: |
2018-07-25 |
Strength: |
Absent |
Sex: |
Not Specified |
Emaps: |
EMAPS:1689421 |
|
Stage: |
TS21 |
Assay Id: |
MGI:6191257 |
Age: |
embryonic day 13.5 |
|
|
Specimen Label: |
Table S2 - E13.5 - Scn1a |
Detected: |
false |
Specimen Num: |
2 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:6182849 |
Assay Type: |
RNA in situ |
Annotation Date: |
2018-07-25 |
Strength: |
Absent |
Sex: |
Male |
Emaps: |
EMAPS:1689424 |
|
Stage: |
TS24 |
Assay Id: |
MGI:6191257 |
Age: |
embryonic day 15.5 |
|
|
Specimen Label: |
Table S2 - E15.5 - Scn1a |
Detected: |
false |
Specimen Num: |
3 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:6182849 |
Assay Type: |
RNA in situ |
Annotation Date: |
2018-07-25 |
Strength: |
Present |
Sex: |
Male |
Emaps: |
EMAPS:1689426 |
Pattern: |
Not Specified |
Stage: |
TS26 |
Assay Id: |
MGI:6191257 |
Age: |
embryonic day 18.5 |
|
|
Specimen Label: |
Table S2 - E18.5 - Scn1a |
Detected: |
true |
Specimen Num: |
4 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:6182849 |
Assay Type: |
RNA in situ |
Annotation Date: |
2018-07-25 |
Strength: |
Present |
Sex: |
Male |
Emaps: |
EMAPS:1689428 |
Pattern: |
Not Specified |
Stage: |
TS28 |
Assay Id: |
MGI:6191257 |
Age: |
postnatal day 4 |
|
|
Specimen Label: |
Table S2 - P4 - Scn1a |
Detected: |
true |
Specimen Num: |
5 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:6182849 |
Assay Type: |
RNA in situ |
Annotation Date: |
2018-07-25 |
Strength: |
Present |
Sex: |
Male |
Emaps: |
EMAPS:1689428 |
Pattern: |
Not Specified |
Stage: |
TS28 |
Assay Id: |
MGI:6191257 |
Age: |
postnatal day 14 |
|
|
Specimen Label: |
Table S2 - P14 - Scn1a |
Detected: |
true |
Specimen Num: |
6 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:6182849 |
Assay Type: |
RNA in situ |
Annotation Date: |
2018-07-25 |
Strength: |
Present |
Sex: |
Male |
Emaps: |
EMAPS:1689428 |
Pattern: |
Not Specified |
Stage: |
TS28 |
Assay Id: |
MGI:6191257 |
Age: |
postnatal day 28 |
|
|
Specimen Label: |
Table S2 - P28 - Scn1a |
Detected: |
true |
Specimen Num: |
7 |
|
•
•
•
•
•
|
Publication |
First Author: |
Purcell RH |
Year: |
2013 |
Journal: |
Psychopharmacology (Berl) |
Title: |
Effects of an epilepsy-causing mutation in the SCN1A sodium channel gene on cocaine-induced seizure susceptibility in mice. |
Volume: |
228 |
Issue: |
2 |
Pages: |
263-70 |
|
•
•
•
•
•
|
Publication |
First Author: |
Yamagata T |
Year: |
2020 |
Journal: |
Neurobiol Dis |
Title: |
CRISPR/dCas9-based Scn1a gene activation in inhibitory neurons ameliorates epileptic and behavioral phenotypes of Dravet syndrome model mice. |
Volume: |
141 |
|
Pages: |
104954 |
|
•
•
•
•
•
|
Publication |
First Author: |
Chen YH |
Year: |
2017 |
Journal: |
Biochim Biophys Acta |
Title: |
MDH2 is an RNA binding protein involved in downregulation of sodium channel Scn1a expression under seizure condition. |
Volume: |
1863 |
Issue: |
6 |
Pages: |
1492-1499 |
|
•
•
•
•
•
|
Publication |
First Author: |
Tatsukawa T |
Year: |
2018 |
Journal: |
Neurobiol Dis |
Title: |
Impairments in social novelty recognition and spatial memory in mice with conditional deletion of Scn1a in parvalbumin-expressing cells. |
Volume: |
112 |
|
Pages: |
24-34 |
|
•
•
•
•
•
|
Publication |
First Author: |
Miljanovic N |
Year: |
2021 |
Journal: |
Epilepsy Res |
Title: |
The impact of Scn1a deficiency and ketogenic diet on the intestinal microbiome: A study in a genetic Dravet mouse model. |
Volume: |
178 |
|
Pages: |
106826 |
|
•
•
•
•
•
|
Publication |
First Author: |
Yuan Y |
Year: |
2019 |
Journal: |
Sci Rep |
Title: |
Delayed maturation of GABAergic signaling in the Scn1a and Scn1b mouse models of Dravet Syndrome. |
Volume: |
9 |
Issue: |
1 |
Pages: |
6210 |
|
•
•
•
•
•
|
Publication |
First Author: |
Makinson CD |
Year: |
2016 |
Journal: |
Exp Neurol |
Title: |
An Scn1a epilepsy mutation in Scn8a alters seizure susceptibility and behavior. |
Volume: |
275 Pt 1 |
|
Pages: |
46-58 |
|
•
•
•
•
•
|
Publication |
First Author: |
Ricobaraza A |
Year: |
2023 |
Journal: |
J Mol Med (Berl) |
Title: |
Preferential expression of SCN1A in GABAergic neurons improves survival and epileptic phenotype in a mouse model of Dravet syndrome. |
Volume: |
101 |
Issue: |
12 |
Pages: |
1587-1601 |
|
•
•
•
•
•
|
Publication |
First Author: |
Hessel EV |
Year: |
2016 |
Journal: |
Eur J Neurosci |
Title: |
Mapping of a FEB3 homologous febrile seizure locus on mouse chromosome 2 containing candidate genes Scn1a and Scn3a. |
Volume: |
44 |
Issue: |
11 |
Pages: |
2950-2957 |
|
•
•
•
•
•
|
Publication |
First Author: |
Wengert ER |
Year: |
2022 |
Journal: |
Brain Res |
Title: |
Targeted Augmentation of Nuclear Gene Output (TANGO) of Scn1a rescues parvalbumin interneuron excitability and reduces seizures in a mouse model of Dravet Syndrome. |
Volume: |
1775 |
|
Pages: |
147743 |
|
•
•
•
•
•
|
Publication |
First Author: |
Chancey JH |
Year: |
2022 |
Journal: |
eNeuro |
Title: |
Synaptic Integration in CA1 Pyramidal Neurons Is Intact despite Deficits in GABAergic Transmission in the Scn1a Haploinsufficiency Mouse Model of Dravet Syndrome. |
Volume: |
9 |
Issue: |
3 |
|
|
•
•
•
•
•
|
Publication |
First Author: |
Richards K |
Year: |
2021 |
Journal: |
Brain Res |
Title: |
Atypical myelinogenesis and reduced axon caliber in the Scn1a variant model of Dravet syndrome: An electron microscopy pilot study of the developing and mature mouse corpus callosum. |
Volume: |
1751 |
|
Pages: |
147157 |
|
•
•
•
•
•
|
Publication |
First Author: |
Ogiwara I |
Year: |
2007 |
Journal: |
J Neurosci |
Title: |
Nav1.1 localizes to axons of parvalbumin-positive inhibitory interneurons: a circuit basis for epileptic seizures in mice carrying an Scn1a gene mutation. |
Volume: |
27 |
Issue: |
22 |
Pages: |
5903-14 |
|
•
•
•
•
•
|
Publication |
First Author: |
Gerbatin RR |
Year: |
2022 |
Journal: |
Exp Neurol |
Title: |
Life-span characterization of epilepsy and comorbidities in Dravet syndrome mice carrying a targeted deletion of exon 1 of the Scn1a gene. |
Volume: |
354 |
|
Pages: |
114090 |
|
•
•
•
•
•
|
Publication |
First Author: |
Tsai MS |
Year: |
2015 |
Journal: |
Neurobiol Dis |
Title: |
Functional and structural deficits of the dentate gyrus network coincide with emerging spontaneous seizures in an Scn1a mutant Dravet Syndrome model during development. |
Volume: |
77 |
|
Pages: |
35-48 |
|
•
•
•
•
•
|
Publication |
First Author: |
Han Z |
Year: |
2020 |
Journal: |
Sci Transl Med |
Title: |
Antisense oligonucleotides increase Scn1a expression and reduce seizures and SUDEP incidence in a mouse model of Dravet syndrome. |
Volume: |
12 |
Issue: |
558 |
|
|
•
•
•
•
•
|
Publication |
First Author: |
Kang SK |
Year: |
2019 |
Journal: |
Epilepsia Open |
Title: |
C57BL/6J and C57BL/6N substrains differentially influence phenotype severity in the Scn1a +/- mouse model of Dravet syndrome. |
Volume: |
4 |
Issue: |
1 |
Pages: |
164-169 |
|
•
•
•
•
•
|
Publication |
First Author: |
Teran FA |
Year: |
2019 |
Journal: |
Front Neurol |
Title: |
Time of Day and a Ketogenic Diet Influence Susceptibility to SUDEP in Scn1a R1407X/+ Mice. |
Volume: |
10 |
|
Pages: |
278 |
|
•
•
•
•
•
|
Publication |
First Author: |
Layer N |
Year: |
2021 |
Journal: |
Front Cell Neurosci |
Title: |
Dravet Variant SCN1A A1783V Impairs Interneuron Firing Predominantly by Altered Channel Activation. |
Volume: |
15 |
|
Pages: |
754530 |
|
•
•
•
•
•
|
Publication |
First Author: |
Mora-Jimenez L |
Year: |
2021 |
Journal: |
Mol Ther Nucleic Acids |
Title: |
Transfer of SCN1A to the brain of adolescent mouse model of Dravet syndrome improves epileptic, motor, and behavioral manifestations. |
Volume: |
25 |
|
Pages: |
585-602 |
|
•
•
•
•
•
|
Publication |
First Author: |
Fadila S |
Year: |
2023 |
Journal: |
J Clin Invest |
Title: |
Viral vector-mediated expression of NaV1.1, after seizure onset, reduces epilepsy in mice with Dravet syndrome. |
Volume: |
133 |
Issue: |
12 |
|
|
•
•
•
•
•
|
Publication |
First Author: |
Tang B |
Year: |
2009 |
Journal: |
Neurobiol Dis |
Title: |
A BAC transgenic mouse model reveals neuron subtype-specific effects of a Generalized Epilepsy with Febrile Seizures Plus (GEFS+) mutation. |
Volume: |
35 |
Issue: |
1 |
Pages: |
91-102 |
|
•
•
•
•
•
|
Publication |
First Author: |
Satpute Janve V |
Year: |
2021 |
Journal: |
Front Pharmacol |
Title: |
The Heat Sensing Trpv1 Receptor Is Not a Viable Anticonvulsant Drug Target in the Scn1a +/- Mouse Model of Dravet Syndrome. |
Volume: |
12 |
|
Pages: |
675128 |
|
•
•
•
•
•
|
Publication |
First Author: |
Almog Y |
Year: |
2022 |
Journal: |
Front Mol Neurosci |
Title: |
Functional Investigation of a Neuronal Microcircuit in the CA1 Area of the Hippocampus Reveals Synaptic Dysfunction in Dravet Syndrome Mice. |
Volume: |
15 |
|
Pages: |
823640 |
|
•
•
•
•
•
|
Publication |
First Author: |
Yamagata T |
Year: |
2023 |
Journal: |
Elife |
Title: |
Scn1a-GFP transgenic mouse revealed Nav1.1 expression in neocortical pyramidal tract projection neurons. |
Volume: |
12 |
|
|
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
169
 |
Fragment?: |
true |
|
•
•
•
•
•
|
Publication |
First Author: |
Hameed MQ |
Year: |
2023 |
Journal: |
Ann Clin Transl Neurol |
Title: |
Depressed glutamate transporter 1 expression in a mouse model of Dravet syndrome. |
Volume: |
10 |
Issue: |
9 |
Pages: |
1695-1699 |
|
•
•
•
•
•
|
Publication |
First Author: |
Stein RE |
Year: |
2019 |
Journal: |
Proc Natl Acad Sci U S A |
Title: |
Hippocampal deletion of NaV1.1 channels in mice causes thermal seizures and cognitive deficit characteristic of Dravet Syndrome. |
Volume: |
116 |
Issue: |
33 |
Pages: |
16571-16576 |
|
•
•
•
•
•
|
Publication |
First Author: |
Ritter-Makinson S |
Year: |
2019 |
Journal: |
Cell Rep |
Title: |
Augmented Reticular Thalamic Bursting and Seizures in Scn1a-Dravet Syndrome. |
Volume: |
26 |
Issue: |
1 |
Pages: |
54-64.e6 |
|
•
•
•
•
•
|
Publication |
First Author: |
Malo MS |
Year: |
1994 |
Journal: |
Cytogenet Cell Genet |
Title: |
Localization of a putative human brain sodium channel gene (SCN1A) to chromosome band 2q24. |
Volume: |
67 |
Issue: |
3 |
Pages: |
178-86 |
|
•
•
•
•
•
|
Publication |
First Author: |
Kaneko K |
Year: |
2022 |
Journal: |
Cell Rep |
Title: |
Developmentally regulated impairment of parvalbumin interneuron synaptic transmission in an experimental model of Dravet syndrome. |
Volume: |
38 |
Issue: |
13 |
Pages: |
110580 |
|
•
•
•
•
•
|
Publication |
First Author: |
Kuo FS |
Year: |
2019 |
Journal: |
Elife |
Title: |
Disordered breathing in a mouse model of Dravet syndrome. |
Volume: |
8 |
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Beckers MC |
Year: |
1996 |
Journal: |
Genomics |
Title: |
A new sodium channel alpha-subunit gene (Scn9a) from Schwann cells maps to the Scn1a, Scn2a, Scn3a cluster of mouse chromosome 2. |
Volume: |
36 |
Issue: |
1 |
Pages: |
202-5 |
|
•
•
•
•
•
|
Publication |
First Author: |
Han S |
Year: |
2012 |
Journal: |
Nature |
Title: |
Autistic-like behaviour in Scn1a+/- mice and rescue by enhanced GABA-mediated neurotransmission. |
Volume: |
489 |
Issue: |
7416 |
Pages: |
385-90 |
|
•
•
•
•
•
|
Publication |
First Author: |
Almog Y |
Year: |
2021 |
Journal: |
Neurobiol Dis |
Title: |
Developmental alterations in firing properties of hippocampal CA1 inhibitory and excitatory neurons in a mouse model of Dravet syndrome. |
Volume: |
148 |
|
Pages: |
105209 |
|
•
•
•
•
•
|
Publication |
First Author: |
Rivadulla C |
Year: |
2023 |
Journal: |
Exp Neurol |
Title: |
Transcranial static magnetic stimulation reduces seizures in a mouse model of Dravet syndrome. |
Volume: |
370 |
|
Pages: |
114581 |
|
•
•
•
•
•
|
Publication |
First Author: |
Salazar JJ |
Year: |
2023 |
Journal: |
Int J Mol Sci |
Title: |
Retinal Tissue Shows Glial Changes in a Dravet Syndrome Knock-in Mouse Model. |
Volume: |
24 |
Issue: |
3 |
|
|
•
•
•
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