Dravet syndrome: Scn1a-A1783V point mutation model (WP5298)

Mus musculus

Authors

Pepin Marshall , Egon Willighagen , and Daniela Digles

Activity

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Cited In

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Organisms

Mus musculus

Communities

Rare Diseases

Annotations

Cell Type Ontology

neuron GABAergic interneuron

Pathway Ontology

disease pathway

Disease Ontology

Dravet syndrome

References

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4. Identification of novel interaction sites that determine specificity between fibroblast growth factor homologous factors and voltage-gated sodium channels. Wang C, Wang C, Hoch EG, Pitt GS. J Biol Chem. 2011 Jul 8;286(27):24253–63. PubMed Europe PMC Scholia
5. Calmodulin and calcium differentially regulate the neuronal Nav1.1 voltage-dependent sodium channel. Gaudioso C, Carlier E, Youssouf F, Clare JJ, Debanne D, Alcaraz G. Biochem Biophys Res Commun. 2011 Jul 29;411(2):329–34. PubMed Europe PMC Scholia
6. Tumor necrosis factor-α enhances voltage-gated Na⁺ currents in primary culture of mouse cortical neurons. Chen W, Sheng J, Guo J, Gao F, Zhao X, Dai J, et al. J Neuroinflammation. 2015 Jun 26;12:126. PubMed Europe PMC Scholia
7. Voltage-Gated Sodium Channel β Subunits and Their Related Diseases. Bouza AA, Isom LL. Handb Exp Pharmacol. 2018;246:423–50. PubMed Europe PMC Scholia
8. mTOR signalling and cellular metabolism are mutual determinants in cancer. Mossmann D, Park S, Hall MN. Nat Rev Cancer. 2018 Dec;18(12):744–57. PubMed Europe PMC Scholia
9. Dravet syndrome as part of the clinical and genetic spectrum of sodium channel epilepsies and encephalopathies. Mei D, Cetica V, Marini C, Guerrini R. Epilepsia. 2019 Dec;60 Suppl 3:S2–7. PubMed Europe PMC Scholia