Dravet syndrome: Scn1a-A1783V point mutation model (Mus musculus)
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Description
Dravet syndrome is a rare form of epilepsy. Between 70% and 80% of patients carry sodium channel α1 subunit gene (SCN1A) loss of function mutations. Truncating mutations (early stop codon) account for about 40% and have a significant correlation with an earlier age of seizures onset. The mutations lead to haploinsufficiency of the voltage-gated sodium channel α subunit NaV1.1 in the of GABAergic inhibitory interneurons in the brain.
Mutations in other genes like KCNA1, CHD2, PCDH19 and STXBP1 can also lead to Dravet syndrome.
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- Chen C, Westenbroek RE, Xu X, Edwards CA, Sorenson DR, Chen Y, McEwen DP, O'Malley HA, Bharucha V, Meadows LS, Knudsen GA, Vilaythong A, Noebels JL, Saunders TL, Scheuer T, Shrager P, Catterall WA, Isom LL; ''Mice lacking sodium channel beta1 subunits display defects in neuronal excitability, sodium channel expression, and nodal architecture.''; J Neurosci, 2004 PubMed Europe PMC Scholia
- Chen W, Sheng J, Guo J, Gao F, Zhao X, Dai J, Wang G, Li K; ''Tumor necrosis factor-α enhances voltage-gated Na⁺ currents in primary culture of mouse cortical neurons.''; J Neuroinflammation, 2015 PubMed Europe PMC Scholia
- Bouza AA, Isom LL; ''Voltage-Gated Sodium Channel β Subunits and Their Related Diseases.''; Handb Exp Pharmacol, 2018 PubMed Europe PMC Scholia
- Mei D, Cetica V, Marini C, Guerrini R; ''Dravet syndrome as part of the clinical and genetic spectrum of sodium channel epilepsies and encephalopathies.''; Epilepsia, 2019 PubMed Europe PMC Scholia
- Wada T, Penninger JM; ''Mitogen-activated protein kinases in apoptosis regulation.''; Oncogene, 2004 PubMed Europe PMC Scholia
- Wierda KD, Toonen RF, de Wit H, Brussaard AB, Verhage M; ''Interdependence of PKC-dependent and PKC-independent pathways for presynaptic plasticity.''; Neuron, 2007 PubMed Europe PMC Scholia
- Mossmann D, Park S, Hall MN; ''mTOR signalling and cellular metabolism are mutual determinants in cancer.''; Nat Rev Cancer, 2018 PubMed Europe PMC Scholia
- Wang C, Hoch EG, Pitt GS; ''Identification of novel interaction sites that determine specificity between fibroblast growth factor homologous factors and voltage-gated sodium channels.''; J Biol Chem, 2011 PubMed Europe PMC Scholia
- Gaudioso C, Carlier E, Youssouf F, Clare JJ, Debanne D, Alcaraz G; ''Calmodulin and calcium differentially regulate the neuronal Nav1.1 voltage-dependent sodium channel.''; Biochem Biophys Res Commun, 2011 PubMed Europe PMC Scholia
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