Pathogenic mechanism of recurrent mutations of SCN8A in epileptic encephalopathy

Annals of Clinical and Translational Neurology

Volumn 3, Issue 2, 2016, Pages 114-123

  Wagnon, Jacy L ^a   Barker, Bryan S ^b   Hounshell, James A ^b   Haaxma, Charlotte A ^c   Shealy, Amy ^d   Moss, Timothy ^d   Parikh, Sumit ^d   Messer, Ricka D ^e   Patel, Manoj K ^b   Meisler, Miriam H ^a  

^a UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

^b UNIVERSITY OF VIRGINIA HEALTH SYSTEM   (United States)

^c RADBOUD UNIVERSITY NIJMEGEN   (Netherlands)

^d LERNER RESEARCH INSTITUTE   (United States)

^e DEPARTMENT OF PATHOLOGY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

VOLTAGE GATED SODIUM CHANNEL;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CLINICAL FEATURE; COGNITION ASSESSMENT; ELECTROPHYSIOLOGICAL PROCEDURES; ELECTROPHYSIOLOGY; FEMALE; GENE; GENE MUTATION; HUMAN; HUMAN TISSUE; IMMUNOPRECIPITATION; LENNOX GASTAUT SYNDROME; MALE; MIDDLE AGED; PRIORITY JOURNAL; SCN8A GENE; SEIZURE; SEQUENCE ANALYSIS; SITE DIRECTED MUTAGENESIS; WESTERN BLOTTING;

EID: 84977544088     PISSN: None     EISSN: 23289503     Source Type: Journal    
DOI: 10.1002/acn3.276     Document Type: Article

References (40)

1. Larsen J, Carvill GL, Gardella E, et al. The phenotypic spectrum of SCN8A encephalopathy. Neurology 2015;84:480-489.
2. Kong W, Zhang Y, Gao Y, et al. SCN8A mutations in Chinese children with early onset epilepsy and intellectual disability. Epilepsia 2015;56:431-438.
3. Ohba C, Kato M, Takahashi S, et al. Early onset epileptic encephalopathy caused by de novo SCN8A mutations. Epilepsia 2014;55:994-1000.
4. Veeramah KR, O'Brien JE, Meisler MH, et al. De novo pathogenic SCN8A mutation identified by whole-genome sequencing of a family quartet affected by infantile epileptic encephalopathy and SUDEP. Am J Hum Genet 2012;90:502-510.
5. Wagnon JL, Meisler MH. Recurrent and non-recurrent mutations of SCN8A in epileptic encephalopathy. Front Neurol 2015;6:104.
6. Blanchard MG, Willemsen MH, Walker JB, et al. De novo gain-of-function and loss-of-function mutations of SCN8A in patients with intellectual disabilities and epilepsy. J Med Genet 2015;52:330-337.
7. de Kovel CG, Meisler MH, Brilstra EH, et al. Characterization of a de novo SCN8A mutation in a patient with epileptic encephalopathy. Epilepsy Res 2014;108:1511-1518.
8. Epi4K Consortium, Epilepsy Phenome/Genome Project, Allen AS, et al. De novo mutations in epileptic encephalopathies. Nature 2013;501:217-221.
9. Estacion M, O'Brien JE, Conravey A, et al. A novel de novo mutation of SCN8A (Nav1.6) with enhanced channel activation in a child with epileptic encephalopathy. Neurobiol Dis 2014;69:117-123.
10. Singh R, Jayapal S, Goyal S, et al. Early-onset movement disorder and epileptic encephalopathy due to de novo dominant SCN8A mutation. Seizure 2015;26:69-71.
11. Takahashi S, Yamamoto S, Okayama A, et al. Electroclinical features of epileptic encephalopathy caused by SCN8A mutation. Pediatr Int 2015;57:758-762.
12. Vaher U, Noukas M, Nikopensius T, et al. De novo SCN8A mutation identified by whole-exome sequencing in a boy with neonatal epileptic encephalopathy, multiple congenital anomalies, and movement disorders. J Child Neurol 2014;29:NP202-NP206.
13. O'Brien JE, Meisler MH. Sodium channel SCN8A (Nav1.6): properties and de novo mutations in epileptic encepha-lopathy and intellectual disability. Front Genet 2013;4:213.
14. Caldwell JH, Schaller KL, Lasher RS, et al. Sodium channel Na(v)1.6 is localized at nodes of Ranvier, dendrites, and synapses. Proc Natl Acad Sci USA 2000;97:5616-5620.
15. Lorincz A, Nusser Z. Cell-type-dependent molecular composition of the axon initial segment. J Neurosci 2008;28:14329-14340.
16. Dyment DA, Tetreault M, Beaulieu CL, et al. Whole-exome sequencing broadens the phenotypic spectrum of rare pediatric epilepsy: a retrospective study. Clin Genet 2015;88:34-40.
17. Rauch A, Wieczorek D, Graf E, et al. Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study. Lancet 2012;380:1674-1682.
18. Carvill GL, Heavin SB, Yendle SC, et al. Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1. Nat Genet 2013;45:825-830.
19. Herzog RI, Cummins TR, Ghassemi F, et al. Distinct repriming and closed-state inactivation kinetics of Nav1.6 and Nav1.7 sodium channels in mouse spinal sensory neurons. J Physiol 2003;551:741-750.
20. Laezza F, Lampert A, Kozel MA, et al. FGF14 N-terminal splice variants differentially modulate Nav1.2 and Nav1.6-encoded sodium channels. Mol Cell Neurosci 2009;42:90-101.
21. Marionneau C, Carrasquillo Y, Norris AJ, et al. The sodium channel accessory subunit Navbeta1 regulates neuronal excitability through modulation of repolarizing voltage-gated K(+) channels. J Neurosci 2012;32:5716-5727.
22. Laezza F, Gerber BR, Lou JY, et al. The FGF14(F145S) mutation disrupts the interaction of FGF14 with voltage-gated Na+ channels and impairs neuronal excitability. J Neurosci 2007;27:12033-12044.
23. Mantegazza M, Yu FH, Powell AJ, et al. Molecular determinants for modulation of persistent sodium current by G-protein betagamma subunits. J Neurosci 2005;25:3341-3349.
24. Hargus NJ, Nigam A, Bertram EH III, Patel MK. Evidence for a role of Nav1.6 in facilitating increases in neuronal hyperexcitability during epileptogenesis. J Neurophysiol 2013;110:1144-1157.
25. Ko SH, Lenkowski PW, Lee HC, et al. Modulation of Na(v)1.5 by beta1- and beta3-subunit co-expression in mammalian cells. Pflugers Arch 2005;449:403-412.
26. O'Brien JE, Sharkey LM, Vallianatos CN, et al. Interaction of voltage-gated sodium channel Nav1.6 (SCN8A) with microtubule-associated protein Map1b. J Biol Chem 2012;287:18459-18466.
27. Wagnon JL, Korn MJ, Parent R, et al. Convulsive seizures and SUDEP in a mouse model of SCN8A epileptic encephalopathy. Hum Mol Genet 2015;24:506-515.
28. Lee A, Goldin AL. Role of the amino and carboxy termini in isoform-specific sodium channel variation. J Physiol 2008;586:3917-3926.
29. Nguyen HM, Goldin AL. Sodium channel carboxyl-terminal residue regulates fast inactivation. J Biol Chem 2010;285:9077-9089.
30. Spampanato J, Kearney JA, de Haan G, et al. A novel epilepsy mutation in the sodium channel SCN1A identifies a cytoplasmic domain for beta subunit interaction. J Neurosci 2004;24:10022-10034.
31. Motoike HK, Liu H, Glaaser IW, et al. The Na+ channel inactivation gate is a molecular complex: a novel role of the COOH-terminal domain. J Gen Physiol 2004;123:155-165.
32. Payandeh J, Scheuer T, Zheng N, Catterall WA. The crystal structure of a voltage-gated sodium channel. Nature 2011;475:353-358.
33. Mantegazza M, Yu FH, Catterall WA, Scheuer T. Role of the C-terminal domain in inactivation of brain and cardiac sodium channels. Proc Natl Acad Sci USA 2001;98:15348-15353.
34. Cormier JW, Rivolta I, Tateyama M, et al. Secondary structure of the human cardiac Na+ channel C terminus: evidence for a role of helical structures in modulation of channel inactivation. J Biol Chem 2002;277:9233-9241.
35. Baasch AL, Huning I, Gilissen C, et al. Exome sequencing identifies a de novo SCN2A mutation in a patient with intractable seizures, severe intellectual disability, optic atrophy, muscular hypotonia, and brain abnormalities. Epilepsia 2014;55:e25-e29.
36. Chanda B, Asamoah OK, Bezanilla F. Coupling interactions between voltage sensors of the sodium channel as revealed by site-specific measurements. J Gen Physiol 2004;123:217-230.
37. Yarov-Yarovoy V, DeCaen PG, Westenbroek RE, et al. Structural basis for gating charge movement in the voltage sensor of a sodium channel. Proc Natl Acad Sci USA 2012;109:E93-E102.
38. Noujaim SF, Kaur K, Milstein M, et al. A null mutation of the neuronal sodium channel NaV1.6 disrupts action potential propagation and excitation-contraction coupling in the mouse heart. FASEB J 2012;26:63-72.
39. Klassen T, Davis C, Goldman A, et al. Exome sequencing of ion channel genes reveals complex profiles confounding personal risk assessment in epilepsy. Cell 2011;145:1036-1048.
40. Anderson LL, Thompson CH, Hawkins NA, et al. Antiepileptic activity of preferential inhibitors of persistent sodium current. Epilepsia 2014;55:1274-1283.