Archives of Medical Research
Volume 41, Issue 3 , Pages 207-214 , April 2010

Two Novel Mutations in SCN1A Gene in Iranian Patients with Epilepsy

  • Ahmad Ebrahimi

      Affiliations

    • National Institute of Genetic Engineering and Biotechnology (NIGEB), Tehran, Iran
    • ,
  • Massoud Houshmand

      Affiliations

    • National Institute of Genetic Engineering and Biotechnology (NIGEB), Tehran, Iran
    • Corresponding Author InformationAddress reprint requests to: Dr. Massoud Houshmand, PhD, Genetic Disease Department, National Institute of Genetic Engineering and Biotechnology, Shahrak-e Pajohesh, km 15, Tehran-Karaj Highway, P.O. Box 14965/161, Tehran, Iran; Phones: (+98) 21 44580301-27, (+98) 21 44580396 & 98
    • ,
  • Seyed Hassan Tonekaboni

      Affiliations

    • Shahid Beheshti, University of Medical Sciences (SBMU), Tehran, Iran
    • ,
  • Mohammd Sadegh Fallah Mahboob Passand

      Affiliations

    • National Institute of Genetic Engineering and Biotechnology (NIGEB), Tehran, Iran
    • ,
  • Sirous Zainali

      Affiliations

    • Biotechnology Department, Pasteur Institute of Iran (IPI), Tehran, Iran
    • ,
  • Mehdi Moghadasi

      Affiliations

    • Department of Neurology, Iran University of Medical Sciences, Tehran, Iran

Received 15 October 2009 ,Accepted 26 January 2010.

References 

  1. Engel J. International League Against Epilepsy (ILAE). 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
  2. Engel J. International League Against Epilepsy (ILAE). Classification of epilepsy syndromes. Epilepsy Res. 2006;70(suppl 1):S5–S10
  3. Dravet C. Severe myoclonic epilepsy in infants and its related syndromes. Epilepsia. 2000;41(suppl 9):7
  4. Dravet C, Bureau M, Oguni H, et al. Severe myoclonic epilepsy in infancy: Dravet syndrome. Adv Neurol. 2005;95:71–102
  5. Rajyadhyaksha S, Kalra V, Potharaju NR, et al. Guidelines for diagnosis and management of childhood epilepsy. Indian Pediatr. 2009;46:681–698
  6. Dubé CM, Brewster AL, Richichi C, et al. Fever, febrile seizures and epilepsy. Trends Neurosci. 2007;30:490–496
  7. Dube CM, Brewster AL, Baram TZ. Febrile seizures: mechanisms and relationship to epilepsy. Brain Dev. 2009;31:366–371
  8. Nelson KB, Ellenberg EJ. Prognosis in children with febrile seizures. Pediatrics. 1978;61:720–727
  9. Hahn A, Neubauer BA. Sodium and potassium channel dysfunctions in rare and common idiopathic epilepsy syndromes. Brain Dev. 2009;31:515–520
  10. Hattori J, Ouchida M, Ono J, et al. A screening test for the prediction of Dravet syndrome before one year of age. Epilepsia. 2007;49:626–633
  11. Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res. 1988;16:1215
  12. Marini C, Scheffer IE, Nabbout R, et al. SCN1A duplications and deletions detected in Dravet syndrome: implications for molecular diagnosis. Epilepsia. 2009, March 11;(E-pub ahead of print)
  13. Striano P, Mancardi MM, Biancheri R, et al. Brain MRI findings in severe myoclonic epilepsy in infancy and genotype-phenotype correlations. Epilepsia. 2007;48:1092–1096
  14. Wang JW, Kurahashi H, Ishii A, et al. Microchromosomal deletions involving SCN1A and adjacent genes in severe myoclonic epilepsy in infancy. Epilepsia. 2008;49:1528–1534
  15. Høie B, Mykletun A, Sommerfelt K, et al. Seizure-related factors and non-verbal intelligence in children with epilepsy. A population-based study from western Norway. Seizure. 2005;14:223–231
  16. Patel MN. Oxidative stress, mitochondrial dysfunction, and epilepsy. Free Radic Res. 2002;36:1139–1146
  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. Wallace RH, Hodgson BL, Grinton BE, et al. Sodium channel alpha1-subunit mutations in severe myoclonic epilepsy of infancy and infantile spasms. Neurology. 2003;61:765–769
  19. 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
  20. Fujiwara T, Sugawara T, Mazaki-Miyazaki E, et al. Mutations of sodium channel alpha subunit type 1 (SCN1A) in intractable childhood epilepsies with frequent generalized tonic-clonic seizures. Brain. 2003;126:531–546
  21. Primer3 online software. Available from: http://frodo.wi.mit.edu/primer3/. (accessed November 2009).
  22. NCBI Primer-BLAST Available from: http://www.ncbi.nlm.nih.gov/tools/primer-blast/index.cgi?LINK_LOC=BlastHome (accessed November 2009).
  23. UCSC genome browser website. Available from: http://genome.ucsc.edu/cgi-bin/hgPcr?command=start (accessed November 2009).
  24. den Dunnen JT, Antonarakis SE. Recommendations for the description of sequence variants. Hum Mutat. 2000;15:7–12
  25. NCBI Gene Bank. Available from: http://www.ncbi.nlm.nih.gov/Genbank/ (accessed November 2009).
  26. Lossin C. A catalog of SCN1A variants. Brain Dev. 2009;31:114–130
  27. Weiss LA, Escayg A, Kearney JA, et al. Sodium channels SCN1A, SCN2A and SCN3A in familial autism. Mol Psychiatry. 2003;8:186–194
  28. Fukuma G, Oguni H, Shirasaka Y, et al. Mutations of neuronal voltage gated Na+ channel alpha 1 subunit gene SCN1A in core severe myoclonic epilepsy in infancy (SMEI) and in borderline SMEI (SMEB). Epilepsia. 2004;45:140–148
  29. Cai LX, Piao YS, Liu L, et al. Correlation between characteristics of interictal epileptiform discharge and histopathological change in epilepsy patients with focal cortical dysplasia. Zhonghua Yi Xue Za Zhi. 2008;88:1153–1157(in Chinese)
  30. Zupanc ML. Clinical evaluation and diagnosis of severe epilepsy syndromes of early childhood. J Child Neurol. 2009;24(8 suppl):6S–14S
  31. Wang XH, Zhou SZ, Guo Q, et al. Clinical analysis and screening for SCN1A gene mutation in two pedigrees of generalized epilepsies with febrile seizures plus. Zhonghua Er Ke Za Zhi. 2009;47:570–574(in Chinese)
  32. Gambardella A, Marini C. Clinical spectrum of SCN1A mutations. Epilepsia. 2009;(50suppl 5):20–23
  33. Ceulemans BP, Claes LR, Lagae LG. Clinical correlations of mutations in the SCN1A gene: from febrile seizures to severe myoclonic epilepsy in infancy. Pediatr Neurol. 2004;30:236–243
  34. Nabbout R, Gennaro E, Dalla Bernardina B, et al. Spectrum of SCN1A mutations in severe myoclonic epilepsy of infancy. Neurology. 2003;60:1961–1967
  35. Claes L, Ceulemans B, Audenaert D, et al. De novo SCN1A mutations are a major cause of severe myoclonic epilepsy of infancy. Hum Mutat. 2003;21:615–621
  36. Lakhan R, Kumari R, Misra UK, 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
  37. NCBI Homologene. Available from: http://www.ncbi.nlm.nih.gov/homologene/21375?ordinalpos=1&itool=EntrezSystem2.PEntre>z.Homologene (accessed November 2009).
  38. Basic S, Hajnsek S, Bozina N, et al. The influence of C3435T polymorphism of ABCB1 gene on penetration of phenobarbital across the blood-brain barrier in patients with generalized epilepsy. Seizure. 2008;17:524–530
  39. Hung CC, Tai JJ, Lin CJ, et al. Complex haplotypic effects of the ABCB1 gene on epilepsy treatment response. Pharmacogenomics. 2005;6:411–417
  40. NCBI SNPs Database: http://www.ncbi.nlm.nih.gov/snp/ (accessed November 2009).

PII: S0188-4409(10)00098-6

doi: 10.1016/j.arcmed.2010.04.007

Archives of Medical Research
Volume 41, Issue 3 , Pages 207-214 , April 2010

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