A few functional studies of in vivo have been performed, which deal with different aspects of the mechanisms of pathogenicity. It is currently hard to make a systematical summary on a specific aspect. Thus, here we list several such publications for your reference.
1. Ogiwara I, Miyamoto H, Morita N, Atapour N, Mazaki E, Inoue I, Takeuchi T, Itohara S, Yanagawa Y, Obata K, Furuichi T, Hensch TK, Yamakawa K. (2007) Nav1.1 localizes to axons of parvalbumin-positive inhibitory interneurons: a circuit basis for epileptic seizures in mice carrying an Scn1a gene mutation. J Neurosci 27:5903-14. [PMID:16921370].
2. Schutte RJ, Schutte SS, Algara J, Barragan EV, Gilligan J, Staber C, Savva YA, Smith MA, Reenan R, O'Dowd DK. (2014) Knock-in model of Dravet syndrome reveals a constitutive and conditional reduction in sodium current. J Neurophysiol 112:903-912. [PMID:24805083].
3. Sun L, Gilligan J, Staber C, Schutte RJ, Nguyen V, O'Dowd DK, Reenan R. (2012) A knock-in model of human epilepsy in Drosophila reveals a novel cellular mechanism associated with heat-induced seizure. J Neurosci 32:14145-14155. [PMID:23055484].
4. Yu FH, Mantegazza M, Westenbroek RE, Robbins CA, Kalume F, Burton KA, Spain WJ, McKnight GS, Scheuer T, Catterall WA. (2006) Reduced sodium current in GABAergic interneurons in a mouse model of severe myoclonic epilepsy in infancy. Nat Neurosci 9:1142-1149. [PMID:16921370].
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Key Laboratory of Neurogenetics and Channelopathies of Guangdong Province and the Ministry of Education of China
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