SCN1A
Podjedinica alfa proteinskog tipa 1 natrijskog kanala (SCN1A), jest protein koji je kod ljudi kodiran genom SCN1A sa hromosoma 2.[5][6][7][8]
Lokacija gena
urediKodljudi, gen SCN1A nalazi se na hromosomu 2, i sastoji se od 26 egzona koji obuhvataju ukupnu dužinu od 6.030 parova nukleotidnih baza (bp).[9][10] Alternativna prerada egzona 5 dovodi do dva alternativna egzona.[11] Promotor je identificiran 2,5 kilobaznih parova (kb) uzvodno od mjesta početka transkripcije, a 5'-netranslirani egzoni mogu poboljšati ekspresiju gena SCN1A u SH-SY5Y ćelijama, ljudske ćelijske linije izvedenoj od neuroblastoma.[12]
Aminokiselinska sekvenca
urediDužina polipeptidnog lanca je 2.009 aminokiselina, a molekulska težina 228.972 Da.[5]
10 | 20 | 30 | 40 | 50 | ||||
---|---|---|---|---|---|---|---|---|
MEQTVLVPPG | PDSFNFFTRE | SLAAIERRIA | EEKAKNPKPD | KKDDDENGPK | ||||
PNSDLEAGKN | LPFIYGDIPP | EMVSEPLEDL | DPYYINKKTF | IVLNKGKAIF | ||||
RFSATSALYI | LTPFNPLRKI | AIKILVHSLF | SMLIMCTILT | NCVFMTMSNP | ||||
PDWTKNVEYT | FTGIYTFESL | IKIIARGFCL | EDFTFLRDPW | NWLDFTVITF | ||||
AYVTEFVDLG | NVSALRTFRV | LRALKTISVI | PGLKTIVGAL | IQSVKKLSDV | ||||
MILTVFCLSV | FALIGLQLFM | GNLRNKCIQW | PPTNASLEEH | SIEKNITVNY | ||||
NGTLINETVF | EFDWKSYIQD | SRYHYFLEGF | LDALLCGNSS | DAGQCPEGYM | ||||
CVKAGRNPNY | GYTSFDTFSW | AFLSLFRLMT | QDFWENLYQL | TLRAAGKTYM | ||||
IFFVLVIFLG | SFYLINLILA | VVAMAYEEQN | QATLEEAEQK | EAEFQQMIEQ | ||||
LKKQQEAAQQ | AATATASEHS | REPSAAGRLS | DSSSEASKLS | SKSAKERRNR | ||||
RKKRKQKEQS | GGEEKDEDEF | QKSESEDSIR | RKGFRFSIEG | NRLTYEKRYS | ||||
SPHQSLLSIR | GSLFSPRRNS | RTSLFSFRGR | AKDVGSENDF | ADDEHSTFED | ||||
NESRRDSLFV | PRRHGERRNS | NLSQTSRSSR | MLAVFPANGK | MHSTVDCNGV | ||||
VSLVGGPSVP | TSPVGQLLPE | VIIDKPATDD | NGTTTETEMR | KRRSSSFHVS | ||||
MDFLEDPSQR | QRAMSIASIL | TNTVEELEES | RQKCPPCWYK | FSNIFLIWDC | ||||
SPYWLKVKHV | VNLVVMDPFV | DLAITICIVL | NTLFMAMEHY | PMTDHFNNVL | ||||
TVGNLVFTGI | FTAEMFLKII | AMDPYYYFQE | GWNIFDGFIV | TLSLVELGLA | ||||
NVEGLSVLRS | FRLLRVFKLA | KSWPTLNMLI | KIIGNSVGAL | GNLTLVLAII | ||||
VFIFAVVGMQ | LFGKSYKDCV | CKIASDCQLP | RWHMNDFFHS | FLIVFRVLCG | ||||
EWIETMWDCM | EVAGQAMCLT | VFMMVMVIGN | LVVLNLFLAL | LLSSFSADNL | ||||
AATDDDNEMN | NLQIAVDRMH | KGVAYVKRKI | YEFIQQSFIR | KQKILDEIKP | ||||
LDDLNNKKDS | CMSNHTAEIG | KDLDYLKDVN | GTTSGIGTGS | SVEKYIIDES | ||||
DYMSFINNPS | LTVTVPIAVG | ESDFENLNTE | DFSSESDLEE | SKEKLNESSS | ||||
SSEGSTVDIG | APVEEQPVVE | PEETLEPEAC | FTEGCVQRFK | CCQINVEEGR | ||||
GKQWWNLRRT | CFRIVEHNWF | ETFIVFMILL | SSGALAFEDI | YIDQRKTIKT | ||||
MLEYADKVFT | YIFILEMLLK | WVAYGYQTYF | TNAWCWLDFL | IVDVSLVSLT | ||||
ANALGYSELG | AIKSLRTLRA | LRPLRALSRF | EGMRVVVNAL | LGAIPSIMNV | ||||
LLVCLIFWLI | FSIMGVNLFA | GKFYHCINTT | TGDRFDIEDV | NNHTDCLKLI | ||||
ERNETARWKN | VKVNFDNVGF | GYLSLLQVAT | FKGWMDIMYA | AVDSRNVELQ | ||||
PKYEESLYMY | LYFVIFIIFG | SFFTLNLFIG | VIIDNFNQQK | KKFGGQDIFM | ||||
TEEQKKYYNA | MKKLGSKKPQ | KPIPRPGNKF | QGMVFDFVTR | QVFDISIMIL | ||||
ICLNMVTMMV | ETDDQSEYVT | TILSRINLVF | IVLFTGECVL | KLISLRHYYF | ||||
TIGWNIFDFV | VVILSIVGMF | LAELIEKYFV | SPTLFRVIRL | ARIGRILRLI | ||||
KGAKGIRTLL | FALMMSLPAL | FNIGLLLFLV | MFIYAIFGMS | NFAYVKREVG | ||||
IDDMFNFETF | GNSMICLFQI | TTSAGWDGLL | APILNSKPPD | CDPNKVNPGS | ||||
SVKGDCGNPS | VGIFFFVSYI | IISFLVVVNM | YIAVILENFS | VATEESAEPL | ||||
SEDDFEMFYE | VWEKFDPDAT | QFMEFEKLSQ | FAAALEPPLN | LPQPNKLQLI | ||||
AMDLPMVSGD | RIHCLDILFA | FTKRVLGESG | EMDALRIQME | ERFMASNPSK | ||||
VSYQPITTTL | KRKQEEVSAV | IIQRAYRRHL | LKRTVKQASF | TYNKNKIKGG | ||||
ANLLIKEDMI | IDRINENSIT | EKTDLTMSTA | ACPPSYDRVT | KPIVEKHEQE | ||||
GKDEKAKGK |
Funkcija
urediKičmenjački natrijski kanal je naponski-ovisni ionki kanal, neophodan za stvaranje i širenje akcijskih potencijala, uglavnom u nervima i mišićima. Natrijski kanali osetljivi na napon su heteromerni kompleksi koji se sastoje od velike centralne glikozilovane alfa podjedinice koja stvara pore i dvije manje pomoćne beta podjedinice. Funkcionalne studije su pokazale da je transmembranska alfa podjedinica moždanih natrijevih kanala dovoljna za ekspresiju funkcionalnih natrijevih kanala.[13] Alfa podjedinice moždanih natrijskih kanala mozga formiraju potporodicu gena sa nekoliko strukturno različitih izoformi grupisanih na hromosomskoj ref+giji 2q24, tipovi I, II (Nav1.2) i III (Nav1.3). Također postoji nekoliko različitih izoformi alfa podjedinica natrijevih kanala u skeletnim i srčanim mišićima (Nav1.4[14] i Nav1.5).[15]
SCN1A gen kodira alfa podjedinicu napo-ovisnog natrijevog ionskog kanala, što ga čini članom deset paralognih porodica gena koje kodiraju naponski natrijev transmembranski protein NaV1.1. Unutar porodice gena koji kodiraju druge dijelove naponski-oviksnihnatrijskih kanala, mutacije SCN1A su prve identificirane, jer su mutacije ovog gena uzrokovale epilepsiju i febrilne napade.[16] Odista, gen SCN1A je jedan od najčešće mutiranih gena u ljudskom genomu koji je povezan s epilepsijom, što mu je dalo titulu „gena super krivca“.[17] Postoji 900 različitih mutacija prijavljenih za gen SCN1A, otprilike polovina prijavljenih mutacija su skraćivanja koja rezultiraju bez sinteze proteina.[18][19] Preostala polovina mutacija su misens mutacije, za koje se predviđa da će ili uzrokovati gubitsk funkcije ili dobitak funkcija, iako je vrlo malo njih testirano na funkcionalnost u laboratoriji.[9]
Suptilne razlike u naponskim kanalima natrijevih iona, mogu imati razorne fiziološke efekte i biti u osnovi abnormalnog neurološkog funkcionisanja.[20][21] Mutations to the SCN1A gene most often result in different forms of seizure disorders, the most common forms of seizure disorders are Dravet Syndrome (DS), Intractable childhood epilepsy with generalized tonic-clonic seizures (ICEGTC), and severe myoclonic epilepsy borderline (SMEB).[18] Klinički, 70-80% pacijenata sa DS je identifikovano s mutacijama specifičnim za gen SCN1A, koje su uzrokovane de novo heterozigotnim mutacijama gena SCN1A.[22] Do sada postoje dvije baze podataka o SCN1A mutacijama, Infobase i SCN1A varijantna baza podataka Arhivirano 22. 7. 2019. na Wayback Machine.
Miševi s nok-in SCN1A mutacijama, koji su modelni organizmi za DS, brzo razvijaju napade, što ukazuje na značajno smanjenje funkcije NaV1.1.[10] Pretpostavljeno je da smanjene struje natrija zbog NaV1.1 mutacija mogu uzrokovati hipoekscitabilnost u GABA inhibitornim interneuronima, što dovodi do epilepsije.[12] Miševi i u homozigotnom i u heterozigotnolm stanju razvijaju fenotip napada i ataksiju. Iako homozigotni miševi umiru u prosjeku tokom druge do treće sedmice života, a otprilike 50% heterozigotnih nul-miševa preživi u odrasloj dobi.[10][12][23]
Klinički značaj
urediMutacije u genu SCN1A uzrokuju nasljedne febrilne napade i GEFS+, tip 2.[24][25][26][27]
Interakcije
urediPokazalo se da Nav1.1 ima reakcije sa sintropinom alfa 1.[28]
Također pogledajte
urediReference
uredi- ^ a b c GRCh38: Ensembl release 89: ENSG00000144285 - Ensembl, maj 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000064329 - Ensembl, maj 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ a b "Entrez Gene: SCN1A sodium channel, voltage-gated, type I, alpha subunit".
- ^ Malo MS, Blanchard BJ, Andresen JM, Srivastava K, Chen XN, Li X, et al. (1994). "Localization of a putative human brain sodium channel gene (SCN1A) to chromosome band 2q24". Cytogenetics and Cell Genetics. 67 (3): 178–86. doi:10.1159/000133818. PMID 8062593.
- ^ Ito M, Nagafuji H, Okazawa H, Yamakawa K, Sugawara T, Mazaki-Miyazaki E, et al. (januar 2002). "Autosomal dominant epilepsy with febrile seizures plus with missense mutations of the (Na+)-channel alpha 1 subunit gene, SCN1A". Epilepsy Research. 48 (1–2): 15–23. doi:10.1016/S0920-1211(01)00313-8. PMID 11823106. S2CID 25555020.
- ^ Catterall WA, Goldin AL, Waxman SG (decembar 2005). "International Union of Pharmacology. XLVII. Nomenclature and structure-function relationships of voltage-gated sodium channels". Pharmacological Reviews. 57 (4): 397–409. doi:10.1124/pr.57.4.4. PMID 16382098. S2CID 7332624.
- ^ a b Meisler MH, O'Brien JE, Sharkey LM (juni 2010). "Sodium channel gene family: epilepsy mutations, gene interactions and modifier effects". The Journal of Physiology. 588 (Pt 11): 1841–8. doi:10.1113/jphysiol.2010.188482. PMC 2901972. PMID 20351042.
- ^ a b c Ogiwara I, Miyamoto H, Morita N, Atapour N, Mazaki E, Inoue I, et al. (maj 2007). "Nav1.1 localizes to axons of parvalbumin-positive inhibitory interneurons: a circuit basis for epileptic seizures in mice carrying an Scn1a gene mutation". The Journal of Neuroscience. 27 (22): 5903–14. doi:10.1523/JNEUROSCI.5270-06.2007. PMC 6672241. PMID 17537961.
- ^ Tate SK, Depondt C, Sisodiya SM, Cavalleri GL, Schorge S, Soranzo N, et al. (april 2005). "Genetic predictors of the maximum doses patients receive during clinical use of the anti-epileptic drugs carbamazepine and phenytoin". Proceedings of the National Academy of Sciences of the United States of America. 102 (15): 5507–12. Bibcode:2005PNAS..102.5507T. doi:10.1073/pnas.0407346102. PMC 556232. PMID 15805193.
- ^ a b c Long YS, Zhao QH, Su T, Cai YL, Zeng Y, Shi YW, et al. (novembar 2008). "Identification of the promoter region and the 5'-untranslated exons of the human voltage-gated sodium channel Nav1.1 gene (SCN1A) and enhancement of gene expression by the 5'-untranslated exons". Journal of Neuroscience Research. 86 (15): 3375–81. doi:10.1002/jnr.21790. PMID 18655196. S2CID 33673297.
- ^ Goldin AL, Snutch T, Lübbert H, Dowsett A, Marshall J, Auld V, et al. (oktobar 1986). "Messenger RNA coding for only the alpha subunit of the rat brain Na channel is sufficient for expression of functional channels in Xenopus oocytes". Proceedings of the National Academy of Sciences of the United States of America. 83 (19): 7503–7. Bibcode:1986PNAS...83.7503G. doi:10.1073/pnas.83.19.7503. PMC 386747. PMID 2429308.
- ^ George AL, Komisarof J, Kallen RG, Barchi RL (februar 1992). "Primary structure of the adult human skeletal muscle voltage-dependent sodium channel". Annals of Neurology. 31 (2): 131–7. doi:10.1002/ana.410310203. PMID 1315496. S2CID 37892568.
- ^ Gellens ME, George AL, Chen LQ, Chahine M, Horn R, Barchi RL, Kallen RG (januar 1992). "Primary structure and functional expression of the human cardiac tetrodotoxin-insensitive voltage-dependent sodium channel". Proceedings of the National Academy of Sciences of the United States of America. 89 (2): 554–8. Bibcode:1992PNAS...89..554G. doi:10.1073/pnas.89.2.554. PMC 48277. PMID 1309946.
- ^ Escayg, A., MacDonald, B. T., Meisler, M. H., Baulac, S., Huberfeld, G., An-Gourfinkel, I., … Malafosse, A. (2000). Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2. Nature Genetics, 24(4), 343–345. https://doi.org/10.1038/74159
- ^ Lossin, C. (2009). A catalog of SCN1A variants. Brain and Development, 31(2), 114–130. https://doi.org/10.1016/j.braindev.2008.07.011
- ^ a b Fujiwara, T., Sugawara, T., Mazaki‐Miyazaki, E., Takahashi, Y., Fukushima, K., Watanabe, M., … Inoue, Y. (2003). Mutations of sodium channel α subunit type 1 (SCN1A) in intractable childhood epilepsies with frequent generalized tonic–clonic seizures. Brain, 126(3), 531–546. https://doi.org/10.1093/brain/awg053
- ^ Ohmori, I., Kahlig, K. M., Rhodes, T. H., Wang, D. W., & George, A. L. (2006). Nonfunctional SCN1A Is Common in Severe Myoclonic Epilepsy of Infancy. Epilepsia, 47(10), 1636–1642. https://doi.org/10.1111/j.1528-1167.2006.00643.x
- ^ Kohrman, D. C., Smith, M. R., Goldin, A. L., Harris, J., & Meisler, M. H. (1996). A Missense Mutation in the Sodium Channel Scn8a Is Responsible for Cerebellar Ataxia in the Mouse Mutant jolting. Journal of Neuroscience, 16(19), 5993–5999.
- ^ Bulman, D. E. (1997). Phenotype Variation and Newcomers in Ion Channel Disorders. Human Molecular Genetics, 6(10), 1679–1685. https://doi.org/10.1093/hmg/6.10.1679
- ^ Claes, L., Del-Favero, J., Ceulemans, B., Lagae, L., Van Broeckhoven, C., & De Jonghe, P. (2001). De Novo Mutations in the Sodium-Channel Gene SCN1A Cause Severe Myoclonic Epilepsy of Infancy. American Journal of Human Genetics, 68(6), 1327–1332.
- ^ Yu, F. H., Mantegazza, M., Westenbroek, R. E., Robbins, C. A., Kalume, F., Burton, K. A., … Catterall, W. A. (2006). Reduced sodium current in GABAergic interneurons in a mouse model of severe myoclonic epilepsy in infancy. Nature Neuroscience, 9(9), 1142–1149. https://doi.org/10.1038/nn1754
- ^ Escayg A, MacDonald BT, Meisler MH, Baulac S, Huberfeld G, An-Gourfinkel I, et al. (april 2000). "Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2". Nature Genetics. 24 (4): 343–5. doi:10.1038/74159. PMID 10742094. S2CID 29543172.
- ^ Spampanato J, Escayg A, Meisler MH, Goldin AL (oktobar 2001). "Functional effects of two voltage-gated sodium channel mutations that cause generalized epilepsy with febrile seizures plus type 2". The Journal of Neuroscience. 21 (19): 7481–90. doi:10.1523/jneurosci.21-19-07481.2001. PMC 6762922. PMID 11567038.
- ^ Nabbout R, Gennaro E, Dalla Bernardina B, Dulac O, Madia F, Bertini E, et al. (juni 2003). "Spectrum of SCN1A mutations in severe myoclonic epilepsy of infancy". Neurology. 60 (12): 1961–7. doi:10.1212/01.wnl.0000069463.41870.2f. PMID 12821740. S2CID 604240.
- ^ Lossin C. "SCN1A infobase". Pristupljeno 30. 10. 2009.
compilation of genetic variations in the SCN1A gene that alter the expression or function of Nav1.1
- ^ Gee SH, Madhavan R, Levinson SR, Caldwell JH, Sealock R, Froehner SC (januar 1998). "Interaction of muscle and brain sodium channels with multiple members of the syntrophin family of dystrophin-associated proteins". The Journal of Neuroscience. 18 (1): 128–37. doi:10.1523/jneurosci.18-01-00128.1998. PMC 6793384. PMID 9412493.
Dopunska literatura
uredi- Lerche H, Jurkat-Rott K, Lehmann-Horn F (2001). "Ion channels and epilepsy". American Journal of Medical Genetics. 106 (2): 146–59. doi:10.1002/ajmg.1582. PMID 11579435.
- Isom LL (januar 2002). "The role of sodium channels in cell adhesion". Frontiers in Bioscience. 7 (1–3): 12–23. doi:10.2741/isom. PMID 11779698.
- Kanai K, Hirose S, Oguni H, Fukuma G, Shirasaka Y, Miyajima T, et al. (juli 2004). "Effect of localization of missense mutations in SCN1A on epilepsy phenotype severity". Neurology. 63 (2): 329–34. doi:10.1212/01.wnl.0000129829.31179.5b. PMID 15277629. S2CID 36070893.
- Oguni H, Hayashi K, Osawa M, Awaya Y, Fukuyama Y, Fukuma G, et al. (2004). "Severe myoclonic epilepsy in infancy: clinical analysis and relation to SCN1A mutations in a Japanese cohort". Advances in Neurology. 95: 103–17. PMID 15508916.
- Mulley JC, Scheffer IE, Petrou S, Dibbens LM, Berkovic SF, Harkin LA (juni 2005). "SCN1A mutations and epilepsy". Human Mutation. 25 (6): 535–42. doi:10.1002/humu.20178. PMID 15880351. S2CID 19148287.
- Catterall WA, Goldin AL, Waxman SG (decembar 2005). "International Union of Pharmacology. XLVII. Nomenclature and structure-function relationships of voltage-gated sodium channels". Pharmacological Reviews. 57 (4): 397–409. doi:10.1124/pr.57.4.4. PMID 16382098. S2CID 7332624.
- Lu CM, Han J, Rado TA, Brown GB (maj 1992). "Differential expression of two sodium channel subtypes in human brain". FEBS Letters. 303 (1): 53–8. doi:10.1016/0014-5793(92)80476-W. PMID 1317301. S2CID 29330026.
- Goldin AL, Snutch T, Lübbert H, Dowsett A, Marshall J, Auld V, et al. (oktobar 1986). "Messenger RNA coding for only the alpha subunit of the rat brain Na channel is sufficient for expression of functional channels in Xenopus oocytes" (PDF). Proceedings of the National Academy of Sciences of the United States of America. 83 (19): 7503–7. Bibcode:1986PNAS...83.7503G. doi:10.1073/pnas.83.19.7503. PMC 386747. PMID 2429308.
- Malo MS, Blanchard BJ, Andresen JM, Srivastava K, Chen XN, Li X, et al. (1994). "Localization of a putative human brain sodium channel gene (SCN1A) to chromosome band 2q24". Cytogenetics and Cell Genetics. 67 (3): 178–86. doi:10.1159/000133818. PMID 8062593.
- Peiffer A, Thompson J, Charlier C, Otterud B, Varvil T, Pappas C, et al. (oktobar 1999). "A locus for febrile seizures (FEB3) maps to chromosome 2q23-24". Annals of Neurology. 46 (4): 671–8. doi:10.1002/1531-8249(199910)46:4<671::AID-ANA20>3.0.CO;2-5. PMID 10514109. S2CID 33638988.
- Wallace RH, Scheffer IE, Barnett S, Richards M, Dibbens L, Desai RR, et al. (april 2001). "Neuronal sodium-channel alpha1-subunit mutations in generalized epilepsy with febrile seizures plus". American Journal of Human Genetics. 68 (4): 859–65. doi:10.1086/319516. PMC 1275639. PMID 11254444.
- Escayg A, Heils A, MacDonald BT, Haug K, Sander T, Meisler MH (april 2001). "A novel SCN1A mutation associated with generalized epilepsy with febrile seizures plus--and prevalence of variants in patients with epilepsy". American Journal of Human Genetics. 68 (4): 866–73. doi:10.1086/319524. PMC 1275640. PMID 11254445.
- Whitaker WR, Faull RL, Waldvogel HJ, Plumpton CJ, Emson PC, Clare JJ (mart 2001). "Comparative distribution of voltage-gated sodium channel proteins in human brain". Brain Research. Molecular Brain Research. 88 (1–2): 37–53. doi:10.1016/S0169-328X(00)00289-8. PMID 11295230.
- Claes L, Del-Favero J, Ceulemans B, Lagae L, Van Broeckhoven C, De Jonghe P (juni 2001). "De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy". American Journal of Human Genetics. 68 (6): 1327–32. doi:10.1086/320609. PMC 1226119. PMID 11359211.
- Sugawara T, Mazaki-Miyazaki E, Ito M, Nagafuji H, Fukuma G, Mitsudome A, et al. (august 2001). "Nav1.1 mutations cause febrile seizures associated with afebrile partial seizures". Neurology. 57 (4): 703–5. doi:10.1212/wnl.57.4.703. PMID 11524484. S2CID 45138036.
- Abou-Khalil B, Ge Q, Desai R, Ryther R, Bazyk A, Bailey R, et al. (decembar 2001). "Partial and generalized epilepsy with febrile seizures plus and a novel SCN1A mutation". Neurology. 57 (12): 2265–72. doi:10.1212/wnl.57.12.2265. PMID 11756608. S2CID 26448714.
- Ito M, Nagafuji H, Okazawa H, Yamakawa K, Sugawara T, Mazaki-Miyazaki E, et al. (januar 2002). "Autosomal dominant epilepsy with febrile seizures plus with missense mutations of the (Na+)-channel alpha 1 subunit gene, SCN1A". Epilepsy Research. 48 (1–2): 15–23. doi:10.1016/S0920-1211(01)00313-8. PMID 11823106. S2CID 25555020.
Vanjski linkovi
uredi- GeneReviews/NCBI/NIH/UW entry on Familial Hemiplegic Migraine
- GeneReviews/NCBI/NIH/UW entry on SCN1A-Related Seizure Disorders
- SCN1A protein, human na US National Library of Medicine Medical Subject Headings (MeSH)
Ovaj članak uključuje tekst iz Nacionalne medicinske biblioteke Sjedinjenih Država, koji je u javnom vlasništvu.