"It was the interneuron with the parvalbumin in the hippocampus!" "No, it was the pyramidal cell with the glutamate in the cortex!" searching for clues to the mechanism of dravet syndrome - the plot thickens

Epilepsy Currents

Volumn 14, Issue 6, 2014, Pages 350-352

  Isom, Lori L ^a  

^a NONE

Author keywords

[No Author keywords available]

Indexed keywords

GLUTAMIC ACID; PARVALBUMIN; SODIUM CHANNEL; SODIUM CHANNEL NAV1.1;

DOWN REGULATION; GENE EXPRESSION; HIPPOCAMPUS; HUMAN; INTERNEURON; NERVE CELL; NONHUMAN; NOTE; PATHOPHYSIOLOGY; PHENOTYPE; PLURIPOTENT STEM CELL; PROTEIN EXPRESSION; PYRAMIDAL NERVE CELL; SEIZURE; SEVERE MYOCLONIC EPILEPSY IN INFANCY; SODIUM CURRENT;

EID: 84920269142     PISSN: 15357597     EISSN: 15357511     Source Type: Journal    
DOI: 10.5698/1535-7597-14.6.350     Document Type: Note

References (13)

1. Claes L, Del Favero J, Ceulemans B, Lagae L, Van Broeckhoven C, De Jonghe P. De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy. Am J Hum Genet 2001;68:1327-1332.
2. Marini C, Scheffer IE, Nabbout R, Suls A, De Jonghe P, Zara F, Guerrini R. The genetics of Dravet syndrome. Epilepsia 2011;52(suppl 2):24-29.
3. Yu FH, Mantegazza M, Westenbroek RE, Robbins CA, Kalume F, Burton KA, Spain WJ, McKnight GS, Scheuer T, Catterall WA. Reduced sodium current in GABAergic interneurons in a mouse model of severe myoclonic epilepsy in infancy. Nat Neurosci 2006;9:1142-1149.
4. 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. Na(v)1.1 localizes to axons of parvalbumin-positive inhibitory interneurons: A circuit basis for epileptic seizures in mice carrying an Scn1a gene mutation. J Neurosci 2007;27:5903-5914.
5. Cheah CS, Yu FH, Westenbroek RE, Kalume FK, Oakley JC, Potter GB, Rubenstein JL, Catterall WA. Specific deletion of NaV1.1 sodium channels in inhibitory interneurons causes seizures and premature death in a mouse model of Dravet syndrome. Proc Natl Acad Sci U S A 2012;109:14646-14651.
6. Kalume F, Westenbroek RE, Cheah CS, Yu FH, Oakley JC, Scheuer T, Catterall WA. Sudden unexpected death in a mouse model of Dravet syndrome. J Clin Invest 2013;123:1798-1808.
7. Yu FH, Mantegazza M, Westenbroek R, Robbins CA, Spain WJ, Burton KA, McKnight GS, Scheuer T, Catterall WA. Deletion of the Nav1.1 channel: A mouse model for severe myoclonic elilepsy of infancy. Abstract Viewer/Itinerary Planner Washington, DC: Society for Neuroscience. 2004; Program No. 479.5.
8. Liautard C, Scalmani P, Carriero G, de Curtis M, Franceschetti S, Mantegazza M. Hippocampal hyperexcitability and specific epileptiform activity in a mouse model of Dravet syndrome. Epilepsia 2013;54:1251-1261.
9. Han S, Tai C, Westenbroek RE, Yu FH, Cheah CS, Potter GB, Rubenstein JL, Scheuer T, de la Iglesia HO, Catterall WA. Autistic-like behaviour in Scn1a+/- mice and rescue by enhanced GABA-mediated neurotransmission. Nature 2012;489:385-390.
10. Han S, Yu FH, Schwartz MD, Linton JD, Bosma MM, Hurley JB, Catterall WA, de la Iglesia HO. Na(V)1.1 channels are critical for intercellular communication in the suprachiasmatic nucleus and for normal circadian rhythms. Proc Natl Acad Sci U S A 2012;109:E368-377.
11. Liu Y, Lopez-Santiago LF, Yuan Y, Jones JM, Zhang H, O'Malley HA, Patino GA, O'Brien JE, Rusconi R, Gupta A, Thompson RC, Natowicz MR, Meisler MH, Isom LL, Parent JM. Dravet syndrome patientderived neurons suggest a novel epilepsy mechanism. Ann Neurol 2013;74:128-139.
12. Jiao J, Yang Y, Shi Y, Chen J, Gao R, Fan Y, Yao H, Liao W, Sun XF, Gao S. Modeling Dravet syndrome using induced pluripotent stem cells (iPSCs) and directly converted neurons. Hum Mol Genet 2013; 22:4241-4252.
13. Miller AR, Hawkins NA, McCollom CE, Kearney JA. Mapping genetic modifiers of survival in a mouse model of Dravet syndrome. Genes Brain Behav 2014;13:163-172.