New mutation c.374C>T and a putative disease-associated haplotype within SCN1B gene in Tunisian families with febrile seizures

European Journal of Neurology

Volumn 18, Issue 5, 2011, Pages 695-702

  Fendri Kriaa, N ^a   Kammoun, F ^a,b   Salem, I Hadj ^a   Kifagi, C ^c   Mkaouar Rebai, E ^a   Hsairi, I ^a,b   Rebai, A ^c   Triki, C ^a,b   Fakhfakh, F ^a  

^a UNIVERSITY OF SFAX   (Tunisia)

^b HABIB BOURGUIBA HOSPITAL   (Tunisia)

^c CENTRE DE BIOTECHNOLOGIE DE SFAX   (Tunisia)

Author keywords

C.374G>T; Febrile seizure; Haplotype; Mutation; SCN1B

Indexed keywords

LEUCINE; PROTEIN; SCN1B PROTEIN; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ARTICLE; CHILD; CLINICAL ARTICLE; FAMILY; FEBRILE CONVULSION; FEMALE; GENE MUTATION; GENE SEQUENCE; GENERALIZED EPILEPSY; HAPLOTYPE; HUMAN; HYDROGEN BOND; MALE; POLYADENYLATION; PRIORITY JOURNAL; PROTEIN STABILITY; PROTEIN STRUCTURE; SCHOOL CHILD; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM; TUNISIA;

ADOLESCENT; ADULT; BRAIN CHEMISTRY; CHILD; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HAPLOTYPES; HUMANS; MALE; MIDDLE AGED; MUTATION; SEIZURES, FEBRILE; SODIUM CHANNELS; TUNISIA;

EID: 79954581857     PISSN: 13515101     EISSN: 14681331     Source Type: Journal    
DOI: 10.1111/j.1468-1331.2010.03216.x     Document Type: Article

References (36)

1. Stafstrom CE. Assessing the behavioral and cognitive effects of seizures on the developing brain. Prog Brain Res 2002; 135: 377-390.
2. Heida JG, Moshé SL, Pittman QJ. The role of interleukin-1beta in febrile seizures. Brain Dev 2009; 31: 388-393.
3. Berg AT, Levy SR, Testa FM, Shinnar S. Classification of childhood epilepsy syndromes in newly diagnosed epilepsy: interrater agreement and reasons for disagreement. Epilepsia 1999; 40: 439-444.
4. Wallace RH, Berkovic SF, Howell RA, Sutherland GR, Mulley JC. Suggestion of a major gene for familial febrile convulsions mapping to 8q13-21. Am J Med Genet 1996; 33: 308-312.
5. Johnson EW, Dubovsky J, Rich SS, et al. Evidence for a novel gene for familial febrile convulsions, FEB2, linked to chromosome 19p in an extended family from the Midwest. Hum Mol Genet 1998; 7: 63-67.
6. Kugler SL, Stenroos ES, Mandelbaum DE, et al. Hereditary febrile seizures: phenotype and evidence for a chromosome 19p locus. Am J Hum Genet 1998; 79: 354-361.
7. Peiffer A, Thompson J, Charlier C, et al. A locus for febrile seizures (FEB3) maps to chromosome 2q23-24. Ann Neurol 1999; 46: 671-678.
8. Nakayama J, Hamano K, Iwasaki N, et al. Significant evidence for linkage of febrile seizures to chromosome 5q14-q15. Hum Mol Genet 2000; 9: 87-91.
9. Nabbout R, Prud'homme JF, Herman A, et al. A locus for simple pure febrile seizures maps to chromosome 6q22-q24. Brain 2002; 125: 2668-2680.
10. Nakayama J, Yamamoto N, Hamano K, et al. Linkage and association of febrile seizures to the IMPA2 gene on human chromosome 18. Neurology 2004; 63: 1803-1807.
11. Hedera P, Ma S, Blair MA, et al. Identification of a novel locus for febrile seizures and epilepsy on chromosome 21q22. Epilepsia 2006; 47: 1622-1628.
12. Audenaert D, Schwartz E, Claeys KG, et al. A novel GABRG2 mutation associated with febrile seizures. Neurology 2006; 67: 687-690.
13. Nabbout R, Baulac S, Desguerre I, et al. New locus for febrile seizures with absence epilepsy on 3p and a possible modifier gene on 18p. Neurology 2007; 24: 1374-1381.
14. Scheffer IE, Berkovic SF. Generalized epilepsy with febrile seizures plus: a genetic disorder with heterogeneous clinical phenotypes. Brain 1997; 120: 479-490.
15. Escayg A, MacDonald BT, Meisler MH, et al. Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2. Nat Genet 2000; 24: 343-345.
16. Sugawara T, Tsurubuchi Y, Agarwala KL, et al. A missense mutation of the Na+ channel alpha II subunit gene Na(v)1.2 in a patient with febrile and afebrile seizures causes channel dysfunction. Proc Natl Acad Sci USA 2001; 98: 6384-6389.
17. Wallace RH, Wang DW, Singh R, et al. Febrile seizures and generalized epilepsy associated with a mutation in the Na+ channel beta1 subunit gene SCN1B. Nat Genet 1998; 19: 366-370.
18. Dibbens L M, Feng H-J, Richards M C, et al. GABRD encoding a protein for extra- or peri-synaptic GABA-A receptors is a susceptibility locus for generalized epilepsies. Hum Mol Genet 2004; 13: 1315-1319.
19. Audenaert D, Claes L, Claeys KG, et al. A novel susceptibility locus at 2p24 for generalized epilepsy with febrile seizures plus. Am J Med Genet 2005; 42: 947-952.
20. Kawazaki E. Sample preparation from blood, cells and others fluids. In: Innis M, Gelffand D eds. PCR protocols. A guide to methods and application.. San Diago: Academic press, 1990: 146-152.
21. Abecasis GR, Cherny SS, Cookson WO, Cardon LR. Merlin-rapid analysis of dense genetic maps using sparse gene flow trees. Nat Genet 2002; 30: 97-101.
22. Stephens M, Smith N, Donnelly P. A new statistical method for haplotype reconstruction from population data. Am J Hum Genet 2001; 68: 978-989.
23. Raudenská M, Bittnerová A, Novotný T, et al. Mutation analysis of candidate genes SCN1B, KCND3 and ANK2 in patients with clinical diagnosis of long QT syndrome. Physiol Res 2008; 57: 857-862.
24. Tatusova TA, Madden TL. BLAST 2 Sequences, a new tool for comparing protein and nucleotide sequences. FEMS Microbiol Lett 1999; 174: 247-250. Erratum in: FEMS Microbiology Letters 1999; 177: 187-188.
25. http://bioinfo.hku.hk/services/analyseq/cgi-bin/clustalw_in.pl. (accessed 06/02/2008).
26. http://polya.umdnj.edu/polya_svm/server/ (accessed 06/02/2008).
27. Altschul SF, Madden TL, Schäffer AA, et al. Gapped BLAST and PSI-BLAST: a new generation of protein database search programs. Nucleic Acids Res 1997; 25: 3389-3402.
28. Thompson JD, Gibson TJ, Plewniak F, et al. The ClustalX windows interface: flexible strategies for multiple sequence alignment aided by quality analysis tools. Nucleic Acids Res 1997; 24: 4876-4882.
29. Marti-Renom MA, Stuart A, Fiser A, et al. Comparative protein structure modeling of genes and genomes. Annu Rev Biophys Biomol Struct 2000; 29: 291-325.
30. Wiederstein M, Sippl MJ. ProSA-web: interactive web service for the recognition of errors in three dimensional structures of proteins. Nucleic Acids Res 2007; 35: W407-W410.
31. Wallace RH, Scheffer IE, Parasivam G, et al. Generalized epilepsy with febrile seizures plus: mutation of the sodium channel subunit SCN1B. Neurology 2002; 58: 1426-1429.
32. Audenaert D, Claes L, Ceulemans B, et al. A deletion in SCN1B is associated with febrile seizures and early-onset absence epilepsy. Neurology 2003; 61: 854-856.
33. Scheffer IE, Harkin LA, Grinton BE, et al. Temporal lobe epilepsy and GEFS+ phenotypes associated with SCN1B mutations. Brain 2007; 130: 100-109.
34. Patino GA, Claes LR, Lopez-Santiago LF, et al. A functional null mutation of SCN1B in a patient with Dravet syndrome. J Neurosci 2009; 29: 10764-10778.
35. Xu R, Thomas EA, Gazina EV, et al. Generalized epilepsy with febrile seizures plus-associated sodium channel beta1 subunit mutations severely reduce beta subunit-mediated modulation of sodium channel function. J Neurosci 2007; 148: 164-174.
36. Fendri-Kriaa N, Kammoun F, Rebai A, et al. Genetic screening of two Tunisian families with generalized epilepsy with febrile seizures plus. Eur J Neurol 2009; 16: 697-704.