Correlations in timing of sodium channel expression, epilepsy, and sudden death in Dravet syndrome

Channels

Volumn 7, Issue 6, 2013, Pages

  Cheah, Christine S ^a   Westenbroek, Ruth E ^a   Roden, William H ^b   Kalume, Franck ^a   Oakley, John C ^c   Jansen, Laura A ^b,c   Catterall, William A ^a  

^a UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

^b SEATTLE CHILDREN S RESEARCH INSTITUTE   (United States)

^c UNIVERSITY OF WASHINGTON   (United States)

Author keywords

Dravet syndrome; Epilepsy; Ion channel; Premature death; Seizure; Sodium channel

Indexed keywords

SODIUM CHANNEL NAV1.1; SODIUM CHANNEL NAV1.3; SCN1A PROTEIN, HUMAN; SCN1A PROTEIN, MOUSE; SODIUM CHANNEL;

ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; BRAIN DEVELOPMENT; BRAIN TISSUE; COMORBIDITY; CONNECTOME; EPILEPSY; HUMAN; HUMAN TISSUE; INTRACTABLE EPILEPSY; MOUSE; NONHUMAN; PROTEIN EXPRESSION; SEIZURE; SEVERE MYOCLONIC EPILEPSY IN INFANCY; SUDDEN DEATH; ANIMAL; BRAIN; GENE EXPRESSION REGULATION; GROWTH, DEVELOPMENT AND AGING; METABOLISM; MYOCLONUS EPILEPSY; TIME;

ANIMALS; BRAIN; DEATH, SUDDEN; EPILEPSIES, MYOCLONIC; GENE EXPRESSION REGULATION; HUMANS; MICE; NAV1.1 VOLTAGE-GATED SODIUM CHANNEL; NAV1.3 VOLTAGE-GATED SODIUM CHANNEL; SODIUM CHANNELS; TIME FACTORS;

EID: 84892141580     PISSN: 19336950     EISSN: 19336969     Source Type: Journal    
DOI: 10.4161/chan.26023     Document Type: Article

References (27)

1. Dravet C. The core Dravet syndrome phenotype. Epilepsia 2011; 52(Suppl 2):3-9; PMID:21463272; http://dx.doi.org/10.1111/j.1528-1167.2011.02994.x
2. Genton P, Velizarova R, Dravet C. Dravet syndrome: the long-term outcome. Epilepsia 2011; 52(Suppl 2):44-9; PMID:21463279; http://dx.doi.org/10.1111/j. 1528-1167.2011.03001.x
3. Skluzacek JV, Watts KP, Parsy O, Wical B, Camfield P. Dravet syndrome and parent associations: the IDEA League experience with comorbid conditions, mortality, management, adaptation, and grief. Epilepsia 2011; 52(Suppl 2):95-101; PMID:21463290; http://dx.doi.org/10.1111/j.1528-1167.2011.03012.x
4. Shorvon S, Tomson T. Sudden unexpected death in epilepsy. Lancet 2011; 378:2028-38; PMID:21737136; http://dx.doi.org/10.1016/S0140-6736(11)60176-1
5. Han S, Yu FH, Schwartz MD, Linton JD, Bosma MM, Hurley JB, Catterall WA, de la Iglesia HO. NaV1.1 channels are critical for intercellular communication in the suprachiasmatic nucleus and for normal circadian rhythms. Proc Natl Acad Sci U S A 2012; 109:E368-77; PMID:22223655; http://dx.doi.org/10.1073/pnas. 1115729109
6. Kalume F, Yu FH, Westenbroek RE, Scheuer T, Catterall WA. Reduced sodium current in Purkinje neurons from Nav1.1 mutant mice: implications for ataxia in severe myoclonic epilepsy in infancy. J Neurosci 2007; 27:11065-74; PMID:17928448; http://dx.doi.org/10.1523/JNEUROSCI.2162-07.2007 (Pubitemid 47574172)
7. Oakley JC, Kalume F, Yu FH, Scheuer T, Catterall WA. Temperature-and age-dependent seizures in a mouse model of severe myoclonic epilepsy in infancy. Proc Natl Acad Sci U S A 2009; 106:3994-9; PMID:19234123; http://dx.doi.org/10. 1073/pnas.0813330106
8. Yu FH, Mantegazza M, Westenbroek RE, Robbins CA, Kalume F, Burton KA, Spain WJ, McKnight GS, Scheuer T, Catterall WA. Reduced sodium current in GAB Aergic interneurons in a mouse model of severe myoclonic epilepsy in infancy. Nat Neurosci 2006; 9:1142-9; PMID:16921370; http://dx.doi.org/10.1038/nn1754 (Pubitemid 44306307)
9. 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; 123:1798-808; PMID:23524966; http://dx.doi.org/10.1172/ JCI66220
10. V1.1 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; 109:14646-51; PMID:22908258; http://dx.doi.org/10.1073/pnas.1211591109
11. Catterall WA. From ionic currents to molecular mechanisms: the structure and function of voltage-gated sodium channels. Neuron 2000; 26:13-25; PMID:10798388; http://dx.doi.org/10.1016/S0896-6273(00)81133-2
12. Gordon D, Merrick D, Auld V, Dunn R, Goldin AL, Davidson N, Catterall WA. Tissue-specific expression of the RI and RII sodium channel subtypes. Proc Natl Acad Sci U S A 1987; 84:8682-6; PMID:2446328; http://dx.doi.org/10.1073/pnas. 84.23.8682
13. Beckh S, Noda M, Lübbert H, Numa S. Differential regulation of three sodium channel messenger RNAs in the rat central nervous system during development. EMBO J 1989; 8:3611-6; PMID:2555170 (Pubitemid 20016038)
14. Felts PA, Yokoyama S, Dib-Hajj S, Black JA, Waxman SG. Sodium channel alpha-subunit mRNAs I, II, III, NaG, Na6 and hNE (PN1): different expression patterns in developing rat nervous system. Brain Res Mol Brain Res 1997; 45:71-82; PMID:9105672; http://dx.doi.org/10.1016/S0169-328X(96)00241-0 (Pubitemid 27182226)
15. Gong B, Rhodes KJ, Bekele-Arcuri Z, Trimmer JS. Type I and type II Na(+) channel alpha-subunit polypeptides exhibit distinct spatial and temporal patterning, and association with auxiliary subunits in rat brain. J Comp Neurol 1999; 412:342-52; PMID:10441760; http://dx.doi.org/10.1002/(SICI)1096- 9861(19990920)412:2<342: :AID-CNE11>3.0.CO;2-2 (Pubitemid 29395369)
16. Vacher H, Mohapatra DP, Trimmer JS. Localization and targeting of voltage-dependent ion channels in mammalian central neurons. Physiol Rev 2008; 88:1407-47; PMID:18923186; http://dx.doi.org/10.1152/physrev.00002.2008
17. Westenbroek RE, Merrick DK, Catterall WA. Differential subcellular localization of the RI and RII Na+ channel subtypes in central neurons. Neuron 1989; 3:695-704; PMID:2561976; http://dx.doi.org/10.1016/0896-6273(89)90238-9
18. Westenbroek RE, Noebels JL, Catterall WA. Elevated expression of type II Na+ channels in hypomyelinated axons of shiverer mouse brain. J Neurosci 1992; 12:2259-67; PMID:1318958
19. Whitaker WR, Faull RL, Waldvogel HJ, Plumpton CJ, Emson PC, Clare JJ. Comparative distribution of voltage-gated sodium channel proteins in human brain. Brain Res Mol Brain Res 2001; 88:37-53; PMID:11295230; http://dx.doi.org/10.1016/S0169-328X(00)00289-8 (Pubitemid 32274258)
20. Ragona F, Brazzo D, De Giorgi I, Morbi M, Freri E, Teutonico F, Gennaro E, Zara F, Binelli S, Veggiotti P, et al. Dravet syndrome: early clinical manifestations and cognitive outcome in 37 Italian patients. Brain Dev 2010; 32:71-7; PMID:19854600; http://dx.doi.org/10.1016/j.braindev.2009.09.014
21. Ragona F, Granata T, Dalla Bernardina B, Offredi F, Darra F, Battaglia D, Morbi M, Brazzo D, Cappelletti S, Chieffo D, et al. Cognitive development in Dravet syndrome: a retrospective, multicenter study of 26 patients. Epilepsia 2011; 52:386-92; PMID:21269283
22. Lim BC, Hwang H, Chae JH, Choi JE, Hwang YS, Kang SH, Ki CS, Kim KJ. SCN1A mutational analysis in Korean patients with Dravet syndrome. Seizure 2011; 20:789-94; PMID:21868258; http://dx.doi.org/10.1016/j.seizure.2011.08.002
23. Petrelli C, Passamonti C, Cesaroni E, Mei D, Guerrini R, Zamponi N, Provinciali L. Early clinical features in Dravet syndrome patients with and without SCN1A mutations. Epilepsy Res 2012; 99:21-7; PMID:22071555; http://dx.doi.org/10.1016/j. eplepsyres.2011.10.010
24. Chieffo D, Battaglia D, Lettori D, Del Re M, Brogna C, Dravet C, Mercuri E, Guzzetta F. Neuropsychological development in children with Dravet syndrome. Epilepsy Res 2011; 95:86-93; PMID:21474289; http://dx.doi.org/10.1016/j. eplepsyres.2011.03.005
25. Sakauchi M, Oguni H, Kato I, Osawa M, Hirose S, Kaneko S, Takahashi Y, Takayama R, Fujiwara T. Mortality in Dravet syndrome: search for risk factors in Japanese patients. Epilepsia 2011; 52(Suppl 2):50-4; PMID:21463280; http://dx.doi.org/10.1111/j.1528-1167.2011.03002.x
26. Jansen LA, Peugh LD, Roden WH, Ojemann JG. Impaired maturation of cortical GABA(A) receptor expression in pediatric epilepsy. Epilepsia 2010; 51:1456-67; PMID:20132297; http://dx.doi.org/10.1111/j.1528-1167.2009.02491.x
27. Yu FH, Westenbroek RE, Silos-Santiago I, McCormick KA, Lawson D, Ge P, Ferriera H, Lilly J, DiStefano PS, Catterall WA, et al. Sodium channel beta4, a new disulfide-linked auxiliary subunit with similarity to beta2. J Neurosci 2003; 23:7577-85; PMID:12930796 (Pubitemid 37034074)