DETECTION OF A1430G MUTATION IN SCN1A GENE IN A PATIENT AFFECTED BY GEFS-LIKE EPILEPSY IN CHAHARMAHAL VA BAKHTIARI PROVINCE

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KHADEMI S.; AHADI A.M.; MEHVARI J.; AYAT H.; FAROKHI E.; MORADI M.T.; HASHEMZADEH CHALESHTORI M.

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Journal: Journal of Shahrekord University of Medical Sciences Year:2011 | Volume:13 | Issue:4 Page(s): 60-66

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Title

DETECTION OF A1430G MUTATION IN SCN1A GENE IN A PATIENT AFFECTED BY GEFS-LIKE EPILEPSY IN CHAHARMAHAL VA BAKHTIARI PROVINCE

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Keywords

EPILEPSYQ2

GENETIC MUTATIONQ2

SCN1A GENEQ2

SODIUM CHANNELQ2

Abstract

Background and aim: SCN1A GENE encodes for neuronal voltage-gated sodium-channel α-subunit. Mutations in this gene are the major cause of severe myoclonic EPILEPSY of infancy (Dravet syndrome) and generalized EPILEPSY with febrile seizures plus (GEFS+). GEFS+ is a heritable benign type of EPILEPSY associated with febrile seizures which belongs to Idiopathic Generalized Epilepsies with a marked clinical and genetic heterogeneity. The main objective of this research is screening of mutations in SCN1A GENE in patients affected by GEFS+ and Idiopathic Generalized EPILEPSY (IGE).Methods: Genetic counseling was carried out with 30 patients and their family. Peripheral blood samples were collected from patients and DNA was extracted using salting out method. Standard PCR on 16th-26th exons of SCN1A GENE was optimized by employment of specific primers. PCR products were analyzed by SSCP in denaturant condition and sequenced in the next step.Results: Results showed a 4289c>g missense mutation in one patient affected by idiopathic generalized EPILEPSY. This mutation changes the alanine residue in 1430 position to glycine (A1430G).Conclusion: More studies are needed to identify the direct role of this mutation in pathogenesis, however, heterozygotic genotype of this mutation is consistent with dominant feature of inheritance of EPILEPSY.

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APA: Copy

KHADEMI, S., AHADI, A.M., MEHVARI, J., AYAT, H., FAROKHI, E., MORADI, M.T., & HASHEMZADEH CHALESHTORI, M.. (2011). DETECTION OF A1430G MUTATION IN SCN1A GENE IN A PATIENT AFFECTED BY GEFS-LIKE EPILEPSY IN CHAHARMAHAL VA BAKHTIARI PROVINCE. JOURNAL OF SHAHREKORD UNIVERSITY OF MEDICAL SCIENCES, 13(4), 60-66. SID. https://sid.ir/paper/58634/en

Vancouver: Copy

KHADEMI S., AHADI A.M., MEHVARI J., AYAT H., FAROKHI E., MORADI M.T., HASHEMZADEH CHALESHTORI M.. DETECTION OF A1430G MUTATION IN SCN1A GENE IN A PATIENT AFFECTED BY GEFS-LIKE EPILEPSY IN CHAHARMAHAL VA BAKHTIARI PROVINCE. JOURNAL OF SHAHREKORD UNIVERSITY OF MEDICAL SCIENCES[Internet]. 2011;13(4):60-66. Available from: https://sid.ir/paper/58634/en

IEEE: Copy

S. KHADEMI, A.M. AHADI, J. MEHVARI, H. AYAT, E. FAROKHI, M.T. MORADI, and M. HASHEMZADEH CHALESHTORI, “DETECTION OF A1430G MUTATION IN SCN1A GENE IN A PATIENT AFFECTED BY GEFS-LIKE EPILEPSY IN CHAHARMAHAL VA BAKHTIARI PROVINCE,” JOURNAL OF SHAHREKORD UNIVERSITY OF MEDICAL SCIENCES, vol. 13, no. 4, pp. 60–66, 2011, [Online]. Available: https://sid.ir/paper/58634/en

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