Early onset epileptic encephalopathy caused by de novo SCN8A mutations

Epilepsia

Volumn 55, Issue 7, 2014, Pages 994-1000

  Ohba, Chihiro ^a,b   Kato, Mitsuhiro ^c   Takahashi, Satoru ^d   Lerman Sagie, Tally ^e   Lev, Dorit ^e   Terashima, Hiroshi ^f   Kubota, Masaya ^f   Kawawaki, Hisashi ^g   Matsufuji, Mayumi ^h   Kojima, Yasuko ⁱ   Tateno, Akihiko ⁱ   Goldberg Stern, Hadassa ^j   Straussberg, Rachel ^j   Marom, Dafna ^j   Leshinsky Silver, Esther ^e   Nakashima, Mitsuko ^a   Nishiyama, Kiyomi ^a   Tsurusaki, Yoshinori ^a   Miyake, Noriko ^a   Tanaka, Fumiaki ^b   Matsumoto, Naomichi ^a   Saitsu, Hirotomo ^a   more..

^a YOKOHAMA CITY UNIVERSITY   (Japan)

^b YOKOHAMA CITY UNIVERSITY   (Japan)

^c YAMAGATA UNIVERSITY   (Japan)

^d ASAHIKAWA MEDICAL COLLEGE   (Japan)

^e WOLFSON MEDICAL CENTER   (Israel)

^f NATIONAL CENTER FOR CHILD HEALTH AND DEVELOPMENT   (Japan)

^g OSAKA CITY GENERAL HOSPITAL   (Japan)

^h KYUSHU HOSPITAL   (Japan)

ⁱ TOHO UNIVERSITY SAKURA MEDICAL CENTER   (Japan)

^j Pediatric Hematology Oncology   (Israel)

more..

Author keywords

De novo mutation; Early onset epileptic encephalopathies; SCN8A

Indexed keywords

AMINO ACID; CARBAMAZEPINE; CORTICOTROPIN; ETIRACETAM; GABAPENTIN; LAMOTRIGINE; LIDOCAINE; METHYL CPG BINDING PROTEIN 2; MIDAZOLAM; PHENOBARBITAL; PHENYTOIN; POTASSIUM CHANNEL KCNQ2; SODIUM CHANNEL NAV1.1; SODIUM CHANNEL NAV1.2; SODIUM CHANNEL NAV1.6; TOPIRAMATE; VALPROIC ACID; VIGABATRIN;

ADOLESCENT; ARTICLE; BENIGN CHILDHOOD EPILEPSY; BRAIN ATROPHY; CEREBELLUM ATROPHY; CHILD; DEVELOPMENTAL DISORDER; EARLY ONSET EPILEPTIC ENCEPHALOPATHY; EPILEPSY; EXOME; FEBRILE CONVULSION; FEMALE; FOCAL EPILEPSY; GENE MUTATION; HIGH RESOLUTION MELTING ANALYSIS; HUMAN; INTELLECTUAL IMPAIRMENT; MAJOR CLINICAL STUDY; MALE; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; PRESCHOOL CHILD; PRIORITY JOURNAL; TONIC CLONIC SEIZURE;

DE NOVO MUTATION; EARLY ONSET EPILEPTIC ENCEPHALOPATHIES; SCN8A;

ADOLESCENT; CHILD; CHILD, PRESCHOOL; EARLY DIAGNOSIS; ELECTROENCEPHALOGRAPHY; EPILEPSY; FEMALE; HUMANS; INFANT; INTELLECTUAL DISABILITY; MALE; MUTATION, MISSENSE; NAV1.6 VOLTAGE-GATED SODIUM CHANNEL; PHENOTYPE; SPASMS, INFANTILE;

EID: 84904392275     PISSN: 00139580     EISSN: 15281167     Source Type: Journal    
DOI: 10.1111/epi.12668     Document Type: Article

References (30)

1. Lai HC, Jan LY,. The distribution and targeting of neuronal voltage-gated ion channels. Nat Rev Neurosci 2006; 7: 548-562.
2. Oliva M, Berkovic SF, Petrou S,. Sodium channels and the neurobiology of epilepsy. Epilepsia 2012; 53: 1849-1859.
3. Meisler MH, Kearney JA,. Sodium channel mutations in epilepsy and other neurological disorders. J Clin Invest 2005; 115: 2010-2017.
4. Whitaker WR, Faull RL, Waldvogel HJ, et al. Comparative distribution of voltage-gated sodium channel proteins in human brain. Brain Res Mol Brain Res 2001; 88: 37-53.
5. Meisler MH, O'Brien JE, Sharkey LM,. Sodium channel gene family: epilepsy mutations, gene interactions and modifier effects. J Physiol 2010; 588: 1841-1848.
6. 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.
7. O'Brien JE, Drews VL, Jones JM, et al. Rbfox proteins regulate alternative splicing of neuronal sodium channel SCN8A. Mol Cell Neurosci 2012; 49: 120-126.
8. O'Brien JE, Meisler MH,. Sodium channel SCN8A (Nav1.6): properties and de novo mutations in epileptic encephalopathy and intellectual disability. Front Genet 2013; 4: 213.
9. 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.
10. Allen AS, Berkovic SF, Cossette P, et al. De novo mutations in epileptic encephalopathies. Nature 2013; 501: 217-221.
11. 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.
12. 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.
13. 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 2013; Dec 18 [Epub ahead of print].
14. Kodera H, Kato M, Nord AS, et al. Targeted capture and sequencing for detection of mutations causing early onset epileptic encephalopathy. Epilepsia 2013; 54: 1262-1269.
15. Saitsu H, Nishimura T, Muramatsu K, et al. De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood. Nat Genet 2013; 45: 445-449, 9e1.
16. Eijkelkamp N, Linley JE, Baker MD, et al. Neurological perspectives on voltage-gated sodium channels. Brain 2012; 135: 2585-2612.
17. Liao Y, Deprez L, Maljevic S, et al. Molecular correlates of age-dependent seizures in an inherited neonatal-infantile epilepsy. Brain 2010; 133: 1403-1414.
18. Nakamura K, Kato M, Osaka H, et al. Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome. Neurology 2013; 81: 992-998.
19. Catterall WA,. From ionic currents to molecular mechanisms: the structure and function of voltage-gated sodium channels. Neuron 2000; 26: 13-25.
20. Rusconi R, Scalmani P, Cassulini RR, et al. Modulatory proteins can rescue a trafficking defective epileptogenic Nav1.1 Na+ channel mutant. J Neurosci 2007; 27: 11037-11046.
21. Vacher H, Trimmer JS,. Trafficking mechanisms underlying neuronal voltage-gated ion channel localization at the axon initial segment. Epilepsia 2012; 53 (Suppl. 9): 21-31.
22. Martin MS, Tang B, Papale LA, et al. The voltage-gated sodium channel Scn8a is a genetic modifier of severe myoclonic epilepsy of infancy. Hum Mol Genet 2007; 16: 2892-2899.
23. Singh NA, Pappas C, Dahle EJ, et al. A role of SCN9A in human epilepsies, as a cause of febrile seizures and as a potential modifier of Dravet syndrome. PLoS Genet 2009; 5: e1000649.
24. Mulley JC, Hodgson B, McMahon JM, et al. Role of the sodium channel SCN9A in genetic epilepsy with febrile seizures plus and Dravet syndrome. Epilepsia 2013; 54: e122-e126.
25. Trudeau MM, Dalton JC, Day JW, et al. Heterozygosity for a protein truncation mutation of sodium channel SCN8A in a patient with cerebellar atrophy, ataxia, and mental retardation. J Med Genet 2006; 43: 527-530.
26. Meisler MH, Plummer NW, Burgess DL, et al. Allelic mutations of the sodium channel SCN8A reveal multiple cellular and physiological functions. Genetica 2004; 122: 37-45.
27. Papale LA, Beyer B, Jones JM, et al. Heterozygous mutations of the voltage-gated sodium channel SCN8A are associated with spike-wave discharges and absence epilepsy in mice. Hum Mol Genet 2009; 18: 1633-1641.
28. Escayg A, Goldin AL,. Sodium channel SCN1A and epilepsy: mutations and mechanisms. Epilepsia 2010; 51: 1650-1658.
29. Kalume F,. Sudden unexpected death in Dravet syndrome: respiratory and other physiological dysfunctions. Respir Physiol Neurobiol 2013; 189: 324-328.
30. Devinsky O,. Sudden, unexpected death in epilepsy. N Engl J Med 2011; 365: 1801-1811.