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Professional paper - Review paper
Mutacija SCN1A gena – genski uzrok epilepsije
Medicina Fluminensis : Medicina Fluminensis, 51 (2015), 2; 261-265. urn:nbn:hr:184:742471
Radić Nišević, Jelena; Prpić, Igor; Sasso, Antun

Institutional repository: Repository of the University of Rijeka, Faculty of Medicine

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Radić Nišević, J., Prpić, I. & Sasso, A. (2015). Mutacija SCN1A gena – genski uzrok epilepsije. Medicina Fluminensis : Medicina Fluminensis, 51. (2), 261-265. Retrieved from https://urn.nsk.hr/urn:nbn:hr:184:742471

Radić Nišević, Jelena, et al. "Mutacija SCN1A gena – genski uzrok epilepsije." Medicina Fluminensis : Medicina Fluminensis, vol. 51, no. 2, 2015, pp. 261-265. https://urn.nsk.hr/urn:nbn:hr:184:742471

Radić Nišević, Jelena, Igor Prpić and Antun Sasso. "Mutacija SCN1A gena – genski uzrok epilepsije." Medicina Fluminensis : Medicina Fluminensis 51, no. 2 (2015): 261-265. https://urn.nsk.hr/urn:nbn:hr:184:742471

Radić Nišević, J., Prpić, I. and Sasso, A. (2015) 'Mutacija SCN1A gena – genski uzrok epilepsije', Medicina Fluminensis : Medicina Fluminensis, 51(2), pp. 261-265. Available at: https://urn.nsk.hr/urn:nbn:hr:184:742471 (Accessed 27 April 2024)

Radić Nišević J, Prpić I, Sasso A. Mutacija SCN1A gena – genski uzrok epilepsije. Medicina Fluminensis : Medicina Fluminensis [Internet]. 2015 June 01 [cited 2024 April 27];51(2):261-265. Available at: https://urn.nsk.hr/urn:nbn:hr:184:742471

J. Radić Nišević, I. Prpić and A. Sasso, "Mutacija SCN1A gena – genski uzrok epilepsije", Medicina Fluminensis : Medicina Fluminensis, vol. 51, no. 2, pp. 261-265, June 2015. [Online]. Available at: https://urn.nsk.hr/urn:nbn:hr:184:742471. [Accessed: 27 April 2024]

Metadata
Title (croatian)Mutacija SCN1A gena – genski uzrok epilepsije
Title (english)Mutation of the SCN1A gene – genetic cause of epilepsy
AuthorJelena Radić Nišević
AuthorIgor Prpić
AuthorAntun Sasso
Author's institutionUniversity of Rijeka
Faculty of Medicine
(Department of Pediatrics)
Scientific / art field,
discipline and subdiscipline		BIOMEDICINE AND HEALTHCARE
Clinical Medical Sciences
Pediatrics
Scientific / art field,
discipline and subdiscipline		BIOMEDICINE AND HEALTHCARE
Clinical Medical Sciences
Neurology
Abstract (croatian)
Voltažno ovisni natrijski kanali sudjeluju u ekscitabilnosti neurona, nužni su za inicijaciju i propagaciju akcijskog potencijala u neuronima. Mutacija SCN1A gena (engl. sodium channel, voltage gated, type I alpha subunit) koji kodira α1 podjedinicu voltažno ovisnih natrijskih kanala povezana je s nekoliko epilepsijskih sindroma, u rasponu od relativno blagih fenotipa nađenih u obiteljima s genskom epilepsijom s febrilnim konvulzijama plus (GEFS+) do teške mioklone epilepsije ranog djetinjstva poznate kao Dravet sindrom. Dravet sindrom jedan je od najtežih epilepsijskih sindroma karakteriziran rezistentnim epileptičkim napadajima i teškim kognitivnim zaostajanjem u dotad normalnog djeteta. Oko 80 % pacijenata s Dravet sindromom nosi mutaciju SCN1A gena. Ovaj pregledni članak prikazuje recentne znanstvene informacije o Dravet sindromu kao primjeru genske epilepsije nastale mutacijom SCN1A gena. Prikazujemo i naša dva pacijenta s Dravet sindromom kod kojih je postavljena dijagnoza na temelju kliničkog tijeka bolesti, odnosno genskog testiranja.
Abstract (english)
Voltage-gated sodium channels are involved in the excitability of neurons, and are critical for the initiation and propagation of action potentials in neurons. Mutation of the gene encoding α1 subunit of voltage-gated sodium channel, SCN1A gene (sodium channel, voltage gated, type I alpha subunit) is associated with several epileptic syndromes, ranging from relatively mild phenotype found in families with genetic epilepsy with febrile seizures plus (GEFS+) to severe myoclonic epilepsy of infancy (known as Dravet syndrome). Dravet syndrome is one of the most severe epileptic syndromes characterized by frequent seizures and severe cognitive impairement in previously normal child. Approximately 80 % of patients with Dravet syndrome carry an SCN1A mutation. This review presents recent scientific information on the syndrome as an example of genetic epilepsy caused by mutation of SCN1A gene. We present two patients with Dravet syndrome in whom the diagnoses were based on clinical features and genetic testing.
Keywords (croatian)
Keywords (english)
Languagecroatian
Publication typeProfessional paper - Review paper
Publication statusPublished
Peer reviewPeer review
Publication versionPublished version
Journal titleMedicina Fluminensis : Medicina Fluminensis
Numberingvol. 51, no. 2, pp. 261-265
p-ISSN0025-7729
URN:NBNurn:nbn:hr:184:742471
Publication2015-06-01
Document URLhttp://hrcak.srce.hr/139471
Type of resourceText
Access conditionsOpen access
Terms of useLicence In copyright icon
Created on2017-04-25 10:44:43