The SCN1A Mutation Database: Updating Information and Analysis of the Relationships among Genotype, Functional Alteration, and Phenotype

Human Mutation

Volumn 36, Issue 6, 2015, Pages 573-580

  Meng, Heng ^a,b   Xu, Hai Qing ^a   Yu, Lu ^a   Lin, Guo Wang ^a   He, Na ^a   Su, Tao ^a   Shi, Yi Wu ^a   Li, Bin ^a   Wang, Jie ^a   Liu, Xiao Rong ^a   Tang, Bin ^a   Long, Yue Sheng ^a   Yi, Yong Hong ^a   Liao, Wei Ping ^a  

^a GUANGZHOU MEDICAL UNIVERSITY   (China)

^b THE FIRST AFFILIATED HOSPITAL OF JINAN UNIVERSITY   (China)

Author keywords

Epilepsy; Mosaicism; Pathogenicity; SCN1A; Sodium channel Nav1.1

Indexed keywords

SODIUM CHANNEL NAV1.1; SCN1A PROTEIN, HUMAN;

ARTICLE; AUTISM; BRAIN DISEASE; DATA BASE; DISEASE SEVERITY; EPILEPSY; FAMILIAL HEMIPLEGIC MIGRAINE; FAMILIAL INCIDENCE; GAIN OF FUNCTION MUTATION; GENE FREQUENCY; GENE LOCATION; GENE MUTATION; GENERALIZED EPILEPSY; GENETIC ANALYSIS; GENETIC COUNSELING; GENOTYPE; HAPLOINSUFFICIENCY; HUMAN; INHERITANCE; LOSS OF FUNCTION MUTATION; MISSENSE MUTATION; MOSAICISM; PATHOGENICITY; PATIENT CARE; PENETRANCE; PHENOTYPE; PRIORITY JOURNAL; SEVERE MYOCLONIC EPILEPSY IN INFANCY; SODIUM CURRENT; SYSTEMATIC REVIEW; FAMILY; GENETIC ASSOCIATION STUDY; GENETIC DATABASE; GENETICS; MUTATION; PROCEDURES;

DATABASES, GENETIC; EPILEPSY; FAMILY; GENETIC ASSOCIATION STUDIES; GENOTYPE; HUMANS; INHERITANCE PATTERNS; MOSAICISM; MUTATION; MUTATION, MISSENSE; NAV1.1 VOLTAGE-GATED SODIUM CHANNEL; PHENOTYPE;

EID: 84929502090     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22782     Document Type: Article

References (45)

1. Altarescu G, Beeri R, Eldar-Geva T, Varshaver I, Margalioth EJ, Levy-Lahad E, Renbaum P. 2012. PGD for germline mosaicism. Reprod Biomed Online 25:390-395.
2. Azmanov DN, Zhelyazkova S, Dimova PS, Radionova M, Bojinova V, Florez L, Smith SJ, Tournev I, Jablensky A, Mulley J, Scheffer I, Kalaydjieva L, et al. 2010. Mosaicism of a missense SCN1A mutation and Dravet syndrome in a Roma/Gypsy family. Epileptic Disord 12:117-124.
3. Cestele S, Scalmani P, Rusconi R, Terragni B, Franceschetti S, Mantegazza M. 2008. Self-limited hyperexcitability: functional effect of a familial hemiplegic migraine mutation of the Nav1.1 (SCN1A) Na+ channel. J Neurosci 28:7273-7283.
4. Ceulemans BP, Claes LR, Lagae LG. 2004. Clinical correlations of mutations in the SCN1A gene: from febrile seizures to severe myoclonic epilepsy in infancy. Pediatr Neurol 30:236-243.
5. Chen YJ, Shi YW, Xu HQ, Chen ML, Gao MM, Sun WW, Tang B, Zeng Y, Liao WP. 2014. Electrophysiological differences between the same pore region mutation in SCN1A and SCN3A. Mol Neurobiol. doi: 10.1007/s12035-014-8802-x.
6. Claes L, Del-Favero J, Ceulemans B, Lagae L, VanBroeckhoven C, DeJonghe P. 2001. De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy. Am J Hum Genet 68:1327-1332.
7. Depienne C, Arzimanoglou A, Trouillard O, Fedirko E, Baulac S, Saint-Martin C, Ruberg M, Dravet C, Nabbout R, Baulac M, Gourfinkel-An I, LeGuern E. 2006. Parental mosaicism can cause recurrent transmission of SCN1A mutations associated with severe myoclonic epilepsy of infancy. Hum Mutat 27:389.
8. Depienne C, Trouillard O, Gourfinkel-An I, Saint-Martin C, Bouteiller D, Graber D, Barthez-Carpentier MA, Gautier A, Villeneuve N, Dravet C, Livet MO, Rivier-Ringenbach C, et al. 2010. Mechanisms for variable expressivity of inherited SCN1A mutations causing Dravet syndrome. J Med Genet 47:404-410.
9. Dichgans M, Freilinger T, Eckstein G, Babini E, Lorenz-Depiereux B, Biskup S, Ferrari MD, Herzog J, vanden Maagdenberg AM, Pusch M, Strom TM. 2005. Mutation in the neuronal voltage-gated sodium channel SCN1A in familial hemiplegic migraine. Lancet 366:371-377.
10. Ebrahimi A, Houshmand M, Tonekaboni SH, Fallah Mahboob Passand MS, Zainali S, Moghadasi M. 2010. Two novel mutations in SCN1A gene in Iranian patients with epilepsy. Arch Med Res 41:207-214.
11. Escayg A, MacDonald BT, Meisler MH, Baulac S, Huberfeld G, An-Gourfinkel I, Brice A, LeGuern E, Moulard B, Chaigne D, Buresi C, Malafosse A. 2000. Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2. Nat Genet 24:343-345.
12. Fujiwara T, Sugawara T, Mazaki-Miyazaki E, Takahashi Y, Fukushima K, Watanabe M, Hara K, Morikawa T, Yagi K, Yamakawa K, Inoue Y. 2003. Mutations of sodium channel alpha subunit type 1 (SCN1A) in intractable childhood epilepsies with frequent generalized tonic-clonic seizures. Brain 126:531-546.
13. Gennaro E, Santorelli FM, Bertini E, Buti D, Gaggero R, Gobbi G, Lini M, Granata T, Freri E, Parmeggiani A, Striano P, Veggiotti P, et al. 2006. Somatic and germline mosaicisms in severe myoclonic epilepsy of infancy. Biochem Biophys Res Commun 341:489-493.
14. George AL, Jr. 2005. Inherited disorders of voltage-gated sodium channels. J Clin Invest 115:1990-1999.
15. International League Against Epilepsy Consortium on Complex Epilepsies. Electronic address e-auea. 2014. Genetic determinants of common epilepsies: a meta-analysis of genome-wide association studies. Lancet Neurol 13:893-903.
16. Kanai K, Hirose S, Oguni H, Fukuma G, Shirasaka Y, Miyajima T, Wada K, Iwasa H, Yasumoto S, Matsuo M, Ito M, Mitsudome A, et al. 2004. Effect of localization of missense mutations in SCN1A on epilepsy phenotype severity. Neurology 63:329-334.
17. Liao WP, Shi YW, Long YS, Zeng Y, Li T, Yu MJ, Su T, Deng P, Lei ZG, Xu SJ, Deng WY, Liu XR, et al. 2010. Partial epilepsy with antecedent febrile seizures and seizure aggravation by antiepileptic drugs: associated with loss of function of Na(v) 1.1. Epilepsia 51:1669-1678.
18. Lim BC, Hwang H, Chae JH, Choi JE, Hwang YS, Kang SH, Ki CS, Kim KJ. 2011. SCN1A mutational analysis in Korean patients with Dravet syndrome. Seizure 20:789-794.
19. 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, et al. 2013. Dravet syndrome patient-derived neurons suggest a novel epilepsy mechanism. Ann Neurol 74:128-139.
20. Long YS, Zhao QH, Su T, Cai YL, Zeng Y, Shi YW, Yi YH, Chang HH, Liao WP. 2008. Identification of the promoter region and the 5′-untranslated exons of the human voltage-gated sodium channel Nav1.1 gene (SCN1A) and enhancement of gene expression by the 5′-untranslated exons. J Neurosci Res 86:3375-3381.
21. Lossin C, Rhodes TH, Desai RR, Vanoye CG, Wang D, Carniciu, S, Devinsky O, George AL. 2003. Epilepsy-associated dysfunction in the voltage-gated neuronal sodium channel SCN1A. J Neurosci 23:11289-11295.
22. Mahoney K, Moore SJ, Buckley D, Alam M, Parfrey P, Penney S, Merner N, Hodgkinson K, Young TL. 2009. Variable neurologic phenotype in a GEFS+ family with a novel mutation in SCN1A. Seizure 18:492-497.
23. Marini C, Mei D, Temudo T, Ferrari AR, Buti D, Dravet C, Dias AI, Moreira A, Calado E, Seri S, Neville B, Narbona J, et al. 2007. Idiopathic epilepsies with seizures precipitated by fever and SCN1A abnormalities. Epilepsia 48:1678-1685.
24. Marini C, Scheffer IE, Nabbout R, Mei D, Cox K, Dibbens LM, McMahon JM, Iona X, Carpintero RS, Elia M, Cilio MR, Specchio N, et al. 2009. SCN1A duplications and deletions detected in Dravet syndrome: implications for molecular diagnosis. Epilepsia 50:1670-1678.
25. Meisler MH, Kearney JA. 2005. Sodium channel mutations in epilepsy and other neurological disorders. J Clin Invest 115:2010-2017.
26. Meng H, Tang B, Yi Y-H, Liao WP. 2013. Splice-site mutations in SCN1A cause epilepsies with febrile seizures: mechanisms and correlations with clinical severity. The 31th International Epilepsy Congress Proceedings. Epilepsia 54(Suppl.3):192.
27. Morimoto M, Mazaki E, Nishimura A, Chiyonobu T, Sawai Y, Murakami A, Nakamura K, Inoue I, Ogiwara I, Sugimoto T, Yamakawa K. 2006. SCN1A mutation mosaicism in a family with severe myoclonic epilepsy in infancy. Epilepsia 47:1732-1736.
28. Mulley JC, Scheffer IE, Petrou S, Dibbens LM, Berkovic SF, Harkin LA. 2005. SCN1A mutations and epilepsy. Hum Mutat 25:535-542.
29. Nakayama T, Ogiwara I, Ito K, Kaneda M, Mazaki E, Osaka H, Ohtani H, Inoue Y, Fujiwara T, Uematsu M, Haginoya K, Tsuchiya S, et al. 2010. Deletions of SCN1A 5′ genomic region with promoter activity in Dravet syndrome. Hum Mutat 31:820-829.
30. Ohmori I, Ouchida M, Ohtsuka Y, Oka E, Shimizu K. 2002. Significant correlation of the SCN1A mutations and severe myoclonic epilepsy in infancy. Biochem Biophys Res Commun 295:17-23.
31. Ottman R, Hirose S, Jain S, Lerche H, Lopes-Cendes I, Noebels JL, Serratosa J, Zara F, Scheffer IE. 2010. Genetic testing in the epilepsies-report of the ILAE genetics commission. Epilepsia 51:655-670.
32. Petrelli C, Passamonti C, Cesaroni E, Mei D, Guerrini R, Zamponi N, Provinciali L. 2012. Early clinical features in Dravet syndrome patients with and without SCN1A mutations. Epilepsy Res 99:21-27.
33. Plummer NW, Meisler MH. 1999. Evolution and diversity of mammalian sodium channel genes. Genomics 57:323-331.
34. Raymond G, Wohler E, Dinsmore C, Cox J, Johnston M, Batista D, Wang T. 2011. An interstitial duplication at 2q24.3 involving the SCN1A, SCN2A, SCN3A genes associated with infantile epilepsy. Am J Med Genet A 155A:920-923.
35. Scheffer IE, Berkovic SF. 1997. Generalized epilepsy with febrile seizures plus. A genetic disorder with heterogeneous clinical phenotypes. Brain 120:479-490.
36. Selmer KK, Eriksson AS, Brandal K, Egeland T, Tallaksen C, Undlien DE. 2009. Parental SCN1A mutation mosaicism in familial Dravet syndrome. Clin Genet 76:398-403.
37. Shi YW, Yu MJ, Long YS, Qin B, He N, Meng H, Liu XR, Deng WY, Gao MM, Yi YH, Li BM, Liao WP. 2012. Mosaic SCN1A mutations in familial partial epilepsy with antecedent febrile seizures. Genes Brain Behav 11:170-176.
38. Sugawara T, Tsurubuchi Y, Fujiwara T, Mazaki-Miyazaki E, Nagata K, Montal M, Inoue Y, Yamakawa K. 2003. Nav1.1 channels with mutations of severe myoclonic epilepsy in infancy display attenuated currents. Epilepsy Res 54:201-207.
39. Suls A, Velizarova R, Yordanova I, Deprez L, VanDyck T, Wauters J, Guergueltcheva V, Claes LR, Kremensky I, Jordanova A, DeJonghe P. 2010. Four generations of epilepsy caused by an inherited microdeletion of the SCN1A gene. Neurology 75:72-76.
40. Sun H, Zhang Y, Liu X, Ma X, Yang Z, Qin J, Jiang Y, Qi Y, Wu X. 2010. Analysis of SCN1A mutation and parental origin in patients with Dravet syndrome. J Hum Genet 55:421-427.
41. Verbeek NE, vander Maas NA, Jansen FE, vanKempen MJ, Lindhout D, Brilstra EH. 2013. Prevalence of SCN1A-related dravet syndrome among children reported with seizures following vaccination: a population-based ten-year cohort study. PLoS One 8:e65758.
42. Verbeek NE, vanKempen M, Gunning WB, Renier WO, Westland B, Lindhout D, Brilstra EH. 2011. Adults with a history of possible Dravet syndrome: an illustration of the importance of analysis of the SCN1A gene. Epilepsia 52:e23-e25.
43. Wallace RH, Scheffer IE, Barnett S, Richards M, Dibbens L, Desai RR, Lerman-Sagie T, Lev D, Mazarib A, Brand N, Ben-Zeev B, Goikhman I, et al. 2001. Neuronal sodium-channel alpha1-subunit mutations in generalized epilepsy with febrile seizures plus. Am J Hum Genet 68:859-865.
44. Weiss LA, Escayg A, Kearney JA, Trudeau M, MacDonald BT, Mori M, Reichert J, Buxbaum JD, Meisler MH. 2003. Sodium channels SCN1A, SCN2A and SCN3A in familial autism. Mol Psychiatry 8:186-194.
45. Zeng T, Dong ZF, Liu SJ, Wan RP, Tang LJ, Liu T, Zhao QH, Shi YW, Yi YH, Liao WP, Long YS. 2014. A novel variant in the 3′ UTR of human SCN1A gene from a patient with Dravet syndrome decreases mRNA stability mediated by GAPDH's binding. Hum Genet 133:801-811.