A putative disease-associated haplotype within the SCN1A gene in Dravet syndrome

Biochemical and Biophysical Research Communications

Volumn 408, Issue 4, 2011, Pages 654-657

  Fendri Kriaa, Nourhène ^a   Boujilbene, Salma ^b   Kammoun, Fatma ^a,b   Mkaouar Rebai, Emna ^a   Mahmoud, Afif Ben ^a   Hsairi, Ines ^a,b   Rebai, Ahmed ^c   Triki, Chahnez ^a,b   Fakhfakh, Faiza ^a  

^a UNIVERSITY OF SFAX   (Tunisia)

^b HEDI CHAKER HOSPITAL   (Tunisia)

^c CENTRE DE BIOTECHNOLOGIE DE SFAX   (Tunisia)

Author keywords

Dravet syndrome; Febrile seizures; Haplotype; SCN1A; SCN1B; SMEI

Indexed keywords

SODIUM CHANNEL NAV1.1; UNCLASSIFIED DRUG; VOLTAGE GATED SODIUM CHANNEL; VOLTAGE GATED SODIUM CHANNEL BETA;

ARTICLE; CASE REPORT; GENE MUTATION; GENETIC ANALYSIS; HAPLOTYPE; HUMAN; PHENOTYPE; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SEVERE MYOCLONIC EPILEPSY IN INFANCY; SINGLE NUCLEOTIDE POLYMORPHISM; TUNISIA;

BASE SEQUENCE; DNA MUTATIONAL ANALYSIS; EPILEPSIES, MYOCLONIC; GENETIC PREDISPOSITION TO DISEASE; HAPLOTYPES; HUMANS; MOLECULAR SEQUENCE DATA; NERVE TISSUE PROTEINS; POLYMORPHISM, SINGLE NUCLEOTIDE; SODIUM CHANNELS;

EID: 79956214410     PISSN: 0006291X     EISSN: 10902104     Source Type: Journal    
DOI: 10.1016/j.bbrc.2011.04.079     Document Type: Article

References (30)

1. Claes L., Del-Favero J., Ceulemans B., et al. De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy. Am. J. Hum. Genet. 2001, 68:1327-1332.
2. Ohmori I., Ouchida M., Ohtsuka Y., et al. Significant correlation of the SCN1A mutations and severe myoclonic epilepsy in infancy. Biochem. Biophys. Res. Commun. 2002, 295:17-23.
3. Millichap J.J., Koh S., Laux L.C., et al. Child neurology: Dravet syndrome: when to suspect the diagnosis. Neurology 2009, 73(13):59-62.
4. Depienne C., Trouillard O., Saint-Martin C., et al. Spectrum of SCN1A gene mutations associated with Dravet syndrome analysis of 333 patients. J. Med. Genet. 2009, 46(3):183-191.
5. Harkin L.A., McMahon J.M., Iona X., et al. The spectrum of SCN1A-related infantile epileptic encephalopathies. Brain 2007, 130:843-852.
6. Madia F., Striano P., Gennaro E., et al. Cryptic chromosome deletions involving SCN1A in severe myoclonic epilepsy of infancy. Neurology 2006, 67:1230-1235.
7. Mulley J.C., Nelson P., Guerrero S., et al. A new molecular mechanism for severe myoclonic epilepsy of infancy: exonic deletions in SCN1A. Neurology 2006, 67:1094-1095.
8. Mulley J.C., Scheffer I.E., Petrou S., et al. SCN1A mutations and epilepsy. Hum. Mutat. 2005, 25:535-542.
9. Suls A., Claeys K.G., Goossens D., et al. Microdeletions involving the SCN1A gene may be common in SCN1A-mutation-negative SMEI patients. Hum. Mutat. 2006, 2:914-920.
10. Wang J.W., Kurahashi H., Ishii A., et al. Microchromosomal deletions involving SCN1A and adjacent genes in severe myoclonic epilepsy in infancy. Epilepsia 2008, 49:1528-1534.
11. Gökben S., Berdeli A., Serdaroǧlu G. An inherited nonsense R1645X mutation in neuronal sodium channel alpha1-subunit gene in a Turkish patient with severe myoclonic epilepsy of infancy. Neuropediatrics 2009, 40(2):82-84.
12. Arlier Z., Bayri Y., Kolb L.E., et al. Four Novel SCN1A mutations in Turkish patients with severe myoclonic epilepsy of infancy (SMEI). J. Child Neurol. 2010, 25:1265-1268.
13. Sun H., Zhang Y., Liu X., et al. Analysis of SCN1A mutation and parental origin in patients with Dravet syndrome. J. Hum. Genet. 2010, 55:421-427.
14. Nabbout R., Dulac O. Epileptic encephalopathies: a brief overview. J. Clin. Neurophysiol. 2003, 20:393-397.
15. Wallace R.H., Hodgson B.L., Grinton B.E., et al. Sodium channel alpha1-subunit mutations in severe myoclonic epilepsy of infancy and infantile spasms. Neurology 2003, 61:765-769.
16. Schlachter K., Gruber-Sedlmayr U., Stogmann E., et al. A splice site variant in the sodium channel gene SCN1A confers risk of febrile seizures. Neurology 2009, 72:974-978.
17. Ebrahimi A., Houshmand M., Tonekaboni S.H., et al. Two novel mutations in SCN1A gene in Iranian patients with epilepsy. Arch. Med. Res. 2010, 41:207-214.
18. Patino G.A., Claes L.R., Lopez-Santiago L.F., et al. A functional null mutation of SCN1B in a patient with Dravet syndrome. J. Neurosci. 2009, 29:10764-10778.
19. 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.
20. Engel J.R. A proposed diagnostic scheme for people with epileptic seizures and with epilepsy: report of the ILAE task force on classification and terminology. Epilepsia 2001, 42:796-803.
21. Kawasaki E., Erlich H. Polymerase chain reaction and analysis of cancer cell markers. J. Natl. Cancer Inst. 1990, 82:806-807.
22. Sugawara T., Tsurubuchi Y., Agarwala K.L., 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.
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 T.A., Madden T.L. Blast 2 sequences - a new tool for comparing protein and nucleotide sequences. FEMS Microbiol. Lett. 1999, 174:247-250.
25. Stephens M., Smith N., Donnelly P. A new statistical method for haplotype reconstruction from population data. Am. J. Hum. Genet. 2001, 68:978-989.
26. 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.
27. Heinzen E.L., Yoon W., Tate S.K., et al. Nova2 interacts with a cis-acting polymorphism to influence the proportions of drug responsive splice variants of SCN1A. Am. J. Hum. Genet. 2007, 80:876-883.
28. Tate S.K., Depondt C., Sisodiya S.M., et al. Genetic predictors of the maximum doses patients receive during clinical use of the anti-epileptic drugs carbamazepine and phenytoin. Proc. Natl. Acad. Sci. USA 2005, 102:5507-5512.
29. Lakhan R., Kumari R., Misra U.K., et al. Differential role of sodium channels SCN1A and SCN2A gene polymorphisms with epilepsy and multiple drug resistance in the north Indian population. Br. J. Clin. Pharmacol. 2009, 68:214-220.
30. Fendri-Kriaa N., Kammoun F., Salem I.H., et al. Eur. J. Neurol. 2010, 10.1111/j.1468-1331.2010.03216.x.