Generalized epilepsy with febrile seizures plus (GEFS+) spectrum: Clinical manifestations and SCN1A mutations in Indonesian patients

Epilepsy Research

Volumn 90, Issue 1-2, 2010, Pages 132-139

  Herini, Elisabeth Siti ^a,b   Gunadi, ^a   Harahap, Indra Sari Kusuma ^a,b   Yusoff, Surini ^a,c   Morikawa, Satoru ^a   Patria, Suryono Yudha ^b   Nishimura, Noriyuki ^a   Sunartini, ^b   Sutaryo, ^b   Takada, Satoshi ^d   Matsuo, Masafumi ^a   Nishio, Hisahide ^a  

^a KOBE UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^b GADJAH MADA UNIVERSITY   (Indonesia)

^c SCHOOL OF PHYSICS   (Malaysia)

^d KOBE UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

Febrile seizures plus (FS+); Generalized epilepsy with febrile seizures plus (GEFS+); SCN1A; Severe myoclonic epilepsy in infancy (SMEI)

Indexed keywords

SODIUM CHANNEL NAV1.1; NERVE PROTEIN; SCN1A PROTEIN, HUMAN; SODIUM CHANNEL;

ARTICLE; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; EPILEPSY; FAMILY HISTORY; FEBRILE CONVULSION; FEMALE; FOCAL EPILEPSY; GENE MUTATION; GENERALIZED EPILEPSY WITH FEBRILE SEIZURE PLUS; GENETIC ANALYSIS; GENETIC ASSOCIATION; GRAND MAL SEIZURE; HUMAN; INDONESIA; MALE; MYOCLONUS EPILEPSY; PRIORITY JOURNAL; RISK ASSESSMENT; RISK FACTOR; COMPLICATION; ELECTROENCEPHALOGRAPHY; FAMILY HEALTH; GENERALIZED EPILEPSY; GENETICS; INFANT; MUTATION; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRESCHOOL CHILD; PROCEDURES;

CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; ELECTROENCEPHALOGRAPHY; EPILEPSY, GENERALIZED; FAMILY HEALTH; FEMALE; HUMANS; INDONESIA; INFANT; MALE; MUTATION; NERVE TISSUE PROTEINS; PHENOTYPE; SEIZURES, FEBRILE; SODIUM CHANNELS; NAV1.1 VOLTAGE-GATED SODIUM CHANNEL;

EID: 77953536268     PISSN: 09201211     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.eplepsyres.2010.04.003     Document Type: Article

References (30)

1. Baulac S., Gourfinkel-An I., Picard F., Rosenberg-Bourgin M., Prud'homme J.F., Baulac M., Brice A., Eric LeGuern E. A second locus for familial generalized epilepsy with febrile seizures plus maps to chromosome 2q21-q33. Am. J. Hum. Genet. 1999, 65:1078-1085.
2. A receptor dysfunction in epilepsy: a mutation in the γ2-subunit gene. Nat. Genet. 2001, 28:46-48.
3. +): clinical spectrum in seven Italian families unrelated to SCN1A, SCN1B and GABRG2 gene mutations. Epilepsia 2004, 45(2):149-158.
4. Cendes I.L., Scheffer I.E., Berkovic S.F., Rousseau M., Andermann E., Rouleau G.A. A new locus for generalized epilepsy with febrile seizures plus maps to chromosome 2. Am. J. Hum. Genet. 2000, 66:698-701.
5. Ceulemans B.P., Claes L.R., Lagae L.G. Clinical correlations of mutations in the SCN1A gene: from febrile seizures to severe myoclonic epilepsy in infancy. Pediatr. Neurol. 2004, 30:236-243.
6. Chamary J.V., Hurst L.D. The price of silent mutations. Sci. Am. 2009, 300(6):46-53.
7. 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.
8. Claes L., Ceulemans B., Audenaert D., Smets K., Löfgren A., Del-Favero J., Ala-Mello S., Basel-Vanagaite L., Plecko B., Raskin S., Thiry P., Wolf N.I., Van Broeckhoven C., De Jonghe1 P. De novo SCN1A mutations are a major cause of severe myoclonic epilepsy of infancy. Hum. Mutat. 2003, 21:615-621.
9. Commission on Classification and Terminology of the International League Against Epilepsy Proposal for revised classification of epilepsies and epileptic syndromes. Epilepsia 1989, 30:389-399.
10. Dibbens L.M., Feng H.J., Richards M.C., Harkin L.A., Hodgson B.L., Scott D., Jenkins M., Petrou S., Sutherland G.R., Scheffer I.E., Berkovic S.F., Macdonald R.L., Mulley J.C. GABRD encoding a protein for extra- or perisynaptic GABAA receptors is a susceptibility locus for generalized epilepsies. Hum. Mol. Genet. 2004, 13(13):1315-1319.
11. Dravet C., Roger J., Bureau M., Dalla Bernardina M. Myoclonic epilepsies in childhood. Advances in Epileptology: The XIII Epilepsy International Symposium 1982, 135-140. Raven Press, New York. H. Akimoto, H. Kazamatsuri, M. Seino, A. Ward (Eds.).
12. Escayg A., MacDonald B.T., Meisler M.H., Baulac S., Huberfeld G., An-Gourfinkel I., Brice A., LeGuern E., Moulard B., Chaigne D., Buresi C., Malafosse A. Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2. Nat. Genet. 2000, 24(4):343-345.
13. Escayg A., Heils A., MacDonald B.T., Haug K., Sander T., Meisler M.H. A novel SCN1A mutation associated with generalized epilepsy with febrile seizures plus- and prevalence of variants in patients with epilepsy. Am. J. Hum. Genet. 2001, 68:866-873.
14. Gunadi, Miura K., Ohta M., Sugano A., Lee M.J., Sato Y., Matsunaga A., Hayashi K., Horikawa T., Miki K., Wataya-Kaneda M., Katayama I., Nishigori C., Matsuo M., Takaoka Y., Nishio H. Two novel mutations in the ED1 gene in Japanese families with X-linked hypohidrotic ectodermal dysplasia. Pediatr. Res. 2009, 65(4):453-457.
15. Hansen T.V.O., Steffensen A.Y., Jonson L., Andersen M.K., Ejlertsen B., Nielsen F.C. The silent mutation nucleotide 744G→A, Lys172Lys, in exon 6 of BRCA2 result in exon skipping. Breast Cancer Res. Treat. 2009, March (Epub).
16. Herini E.S., Gunadi, van Kempen M.J.A., Yusoff S., Sutaryo, Sunartini, Patria S.Y., Matsuo M., Lindhout D., Nishio H. Novel SCN1A mutations in Indonesian patients with severe myoclonic epilepsy in infancy. Pediatr. Int. 2009, June 26 (Epub).
17. Mrabet H., Belhedi N., Bouchlaka S., El Gaaied A., Mrabet A. GEFS+ is not related to the most common mutations of SCN1B, SCN1A and GABRG2 in two Tunisian families. Neurol. Sci. 2007, 28(6):311-314.
18. Oguni H., Hayashi K., Awaya Y., Fukuyama Y., Osawa M. Severe myoclonic epilepsy in infants-a review based on the Tokyo Women's Medical University series of 84 cases. Brain Dev. 2001, 23:736-748.
19. Ohmori I., Ouchida M., Ohtsuka Y., Oka E., Shimizu K. Significant correlation of the SCN1A mutations and severe myoclonic epilepsy in infancy. Biochem. Biophys. Res. Commun. 2002, 295:17-23.
20. Richards A.J., Laidlaw M., Meredith S.P., Shankar P., Poulson A.V., Scott J.D., Snead M.P. Missense and silent mutation in COL2A1 result in stickler syndrome but via different molecular mechanism. Hum. Mutat. 2007, 28(6):639-647.
21. Samuelsson T., Axberg T., Boren T., Lagerkvist U. Unconventional reading of the glycine codons. J. Biol. Chem. 1983, 258(21):13178-13183.
22. Scheffer I.E., Berkovic S.F. Generalized epilepsy with febrile seizures plus. A genetic disorder with heterogeneous clinical phenotypes. Brain 1997, 20:479-490.
23. Scheffer I.E., Zhang Y.H., Jansen F.E., Dibbens L. Dravet syndrome or genetic (generalized) epilepsy with febrile seizures plus?. Brain Dev. 2009, 31:394-400.
24. Scheffer I.E., Wallace R., Mulley J.C., Berkovic S.F. Clinical and molecular genetics of myoclonic-astatic epilepsy and severe myoclonic epilepsy in infancy (Dravet syndrome). Brain Dev. 2001, 23:732-735.
25. Scheffer I.E., Harkin L.A., Grinton B.E., Dibbens L.M., Turner S.J., Zielinski M.A., Xu R., Jackson G., Adams J., Connellan M., Petrou S., Wallard R.M., Briellmann R.S., Wallace R.H., Mulley J.C., Berkovic S.F. Temporal lobe epilepsy and GEFS+ phenotype associated with SCN1B mutations. Brain 2007, 130:100-109.
26. Shah J.H., Maguire D.J., Munce T.B., Cotterill A. Alanin in HI: a silent mutation cries out. Oxygen Transport to Tissue XXIX 2008, 145-149. Springer, New York. K.A. Kang (Ed.).
27. Singh R., Andermann E., Whitehouse W.P.A., Harvey S.A., Keene D.L., Seni M.H., Crossland K.M., Andermann F., Berkovic S.F., Scheffer I.E. Severe myoclonic epilepsy of infancy: extended spectrum of GEFS?. Epilepsia 2001, 42(7):837-844.
28. Singh R., Scheffer I.E., Crossland K., Berkovix S.F. Generalized epilepsy with febrile seizure plus: a common childhood-onset genetic epilepsy syndrome. Ann. Neurol. 1999, 45:75-81.
29. Wallace R.H., Wang D.W., Singh R., Scheffer I.E., George A.L., Phillips H.A., Saar K., Reis A., Johnson E.W., Sutherland G.R., Berkovic S.F., Mulley J.C. Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel beta1 subunit gene SCN1B. Nat. Genet. 1998, 19(4):366-370.
30. Wallace R.H., Scheffer I.E., Barnett S., Richards M., Dibbens L., Desai R.R., Lerman-Sagie T., Lev D., Mazarib A., Brand N., Ben-Zeev B., Goikhman I., Singh R., Kremmidiotis G., Gardner A., Sutherland G.R., George A.L., Mulley J.C., Berkovic S.F. Neuronal sodium-channel α1-subunit mutations in generalized epilepsy with febrile seizure plus. Am. J. Hum. Genet. 2001, 68:859-865.