| 1 | SCN1A, SMEI2
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| Aberrant Inclusion of a Poison Exon Causes Dravet Syndrome and Related SCN1A-Associated Genetic Epilepsies.
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| Carvill GL, Engel KL, Ramamurthy A, Cochran JN, Roovers J, Stamberger H, Lim N, Schneider AL, Hollingsworth G, Holder DH, Regan BM, Lawlor J, Lagae L, Ceulemans B, Bebin EM, Nguyen J; EuroEPINOMICS Rare Epilepsy Syndrome, Myoclonic-Astatic Epilepsy, and Dravet Working Group, Barsh GS, Weckhuysen S, Meisler M, Berkovic SF, De Jonghe P, Scheffer IE, Myers RM, Cooper GM, Mefford HC.
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| Am J Hum Genet 103(6):1022-1029. doi: 10.1016/j.ajhg.2018.10.023.
2018
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| 2 | SCN1A, SMEI2
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| Dissecting the phenotypes of Dravet syndrome by gene deletion.
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| Rubinstein M, Han S, Tai C, Westenbroek RE, Hunker A, Scheuer T, Catterall WA.
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| Brain 138(Pt 8):2219-33. doi: 10.1093/brain/awv142.
2015
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| 3 | SCN1A, SMEI2
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| Atypical multifocal Dravet syndrome lacks generalized seizures and may show later cognitive decline.
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| Kim YO, Bellows S, McMahon JM, Iona X, Damiano J, Dibbens L, Kelley K, Gill D, Cross JH, Berkovic SF, Scheffer IE.
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| Dev Med Child Neurol 56(1):85-90. doi: 10.1111/dmcn.12322.
2014
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| 4 | SCN1A, SMEI2
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| Nontruncating SCN1A mutations associated with severe myoclonic epilepsy of infancy impair cell surface expression.
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| Thompson CH, Porter JC, Kahlig KM, Daniels MA, George AL Jr.
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| J Biol Chem 287(50):42001-8. doi: 10.1074/jbc.M112.421883. Epub 2012 Oct 19.
2012
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| 5 | SCN1A, SMEI2
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| A putative disease-associated haplotype within the SCN1A gene in Dravet syndrome.
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| Fendri-Kriaa N, Boujilbene S, Kammoun F, Mkaouar-Rebai E, Ben Mahmoud A, Hsairi I, Rebai A, Triki C, Fakhfakh F.
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| Biochem Biophys Res Commun 408(4):654-7. Epub 2011 Apr 21.
2011
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| 6 | EIEE74, GABRG2, PCDH19, SCN1A, SCN1B, SMEI2
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| The genetics of Dravet syndrome.
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| Marini C, Scheffer IE, Nabbout R, Suls A, De Jonghe P, Zara F, Guerrini R.
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| Epilepsia 52 Suppl 2:24-9. doi: 10.1111/j.1528-1167.2011.02997.x. Review. 2011
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| 7 | SCN1A, SMEI2
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| De novo SCN1A mutations in Dravet syndrome and related epileptic encephalopathies are largely of paternal origin.
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| Heron SE, Scheffer IE, Iona X, Zuberi SM, Birch R, McMahon JM, Bruce CM, Berkovic SF, Mulley JC.
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| J Med Genet 47(2):137-41. Epub 2009 Jul 8.PMID: 19589774 2010
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| 8 | SCN1A, SMEI2
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| Mechanisms for variable expressivity of inherited SCN1A mutations causing Dravet syndrome.
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| Depienne C, Trouillard O, Gourfinkel-An I, Saint-Martin C, Bouteiller D, Graber D, Barthez-Carpentier MA, Gautier A, Villeneuve N, Dravet C, Livet MO, Rivier-Ringenbach C, Adam C, Dupont S, Baulac S, Héron D, Nabbout R, Leguern E.
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| J Med Genet 47(6):404-10.PMID: 20522430 2010
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| 9 | SCN1A, SMEI2
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| Analysis of SCN1A mutation and parental origin in patients with Dravet syndrome.
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| Sun H, Zhang Y, Liu X, Ma X, Yang Z, Qin J, Jiang Y, Qi Y, Wu X.
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| J Hum Genet 55(7):421-7. Epub 2010 Apr 30. 2010
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| 10 | GABRG2, GEFSP1, GEFSP2, SCB1A, SCN1B, SMEI2
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| Dravet syndrome or genetic (generalized) epilepsy with febrile seizures plus?
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| Scheffer IE, Zhang YH, Jansen FE, Dibbens L.
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| Brain Dev 31(5):394-400. Epub 2009 Feb 8. 2009
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| 11 | SCN1A, SMEI2
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| Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients.
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| Depienne C, Trouillard O, Saint-Martin C, Gourfinkel-An I, Bouteiller D, Carpentier W, Keren B, Abert B, Gautier A, Baulac S, Arzimanoglou A, Cazeneuve C, Nabbout R, LeGuern E.
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| J Med Genet 46(3):183-91. Epub 2008 Oct 17.
2009
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| 12 | DEl2Q24, EIEE74, GEFSP2, SCN1A, SCN2A, SCN3A, SMEI2
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| SCN1A duplications and deletions detected in Dravet syndrome: implications for molecular diagnosis.
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| Marini C, Scheffer IE, Nabbout R, Mei D, Cox K, Dibbens LM, McMahon JM, Iona X, Carpintero RS, Elia M, Cilio MR, Specchio N, Giordano L, Striano P, Gennaro E, Cross JH, Kivity S, Neufeld MY, Afawi Z, Andermann E, Keene D, Dulac O, Zara F, Berkovic SF, Guerrini R, Mulley JC.
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| Epilepsia 50(7):1670-8. Epub 2009 Mar 12. 2009
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| 13 | SCN1A, DEL2Q24, SMEI2
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| Deletion of the SCN gene cluster on 2q24.4 is associated with severe epilepsy: An array-based genotype-phenotype correlation and a comprehensive review of previously published cases.
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| Davidsson J, Collin A, Olsson ME, Lundgren J, Soller M.
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| Epilepsy Res pilepsy Res. 2008 Jun 6. [Epub ahead of print] 2008
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| 14 | SCN1A, DEL2Q24, SMEI2
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| Microchromosomal deletions involving SCN1A and adjacent genes in severe myoclonic epilepsy in infancy.
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| Wang JW, Kurahashi H, Ishii A, Kojima T, Ohfu M, Inoue T, Ogawa A, Yasumoto S, Oguni H, Kure S, Fujii T, Ito M, Okuno T, Shirasaka Y, Natsume J, Hasegawa A, Konagaya A, Kaneko S, Hirose S.
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| Epilepsia pilepsia. 2008 May 8. [Epub ahead of print] 2008
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| 15 | SCN1A, DEL2Q24, SMEI2
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| Balanced translocation in a patient with severe myoclonic epilepsy of infancy disrupts the sodium channel gene SCN1A.
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| M¿ller RS, Schneider LM, Hansen CP, Bugge M, Ullmann R, Tommerup N, TŸmer Z.
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| Epilepsia 49(6):1091-4. Epub 2008 Feb 20. 2008
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| 16 | SCN1A, SMEI2
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| Novel SCN1A frameshift mutation with absence of truncated Nav1.1 protein in severe myoclonic epilepsy of infancy.
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| McArdle EJ, Kunic JD, George AL Jr.
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| Am J Med Genet A 146A(18):2421-3. No abstract available.
2008
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| 17 | SCN1A, SMEI2, DEL2Q24
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| Microdeletions involving the SCN1A gene may be common in SCN1A-mutation-negative SMEI patients.
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| Suls A, Claeys KG, Goossens D, Harding B, Van Luijk R, Scheers S, Deprez L, Audenaert D, Van Dyck T, Beeckmans S, Smouts I, Ceulemans B, Lagae L, Buyse G, Barisic N, Misson JP, Wauters J, Del-Favero J, De Jonghe P, Claes LR.
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| Hum Mutat 27(9):914-20. 2006
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| 18 | SCN1A, SMEI2
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| A new molecular mechanism for severe myoclonic epilepsy of infancy: exonic deletions in SCN1A.
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| Mulley JC, Nelson P, Guerrero S, Dibbens L, Iona X, McMahon JM, Harkin L, Schouten J, Yu S, Berkovic SF, Scheffer IE.
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| Neurology 67(6):1094-5. 2006
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| 19 | GABRG2, GEFSP2, SCN1A, SMEI2
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| Severe myoclonic epilepsy of infancy (Dravet syndrome): recognition and diagnosis in adults.
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| Jansen FE, Sadleir LG, Harkin LA, Vadlamudi L, McMahon JM, Mulley JC, Scheffer IE, Berkovic SF.
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| Neurology 67(12):2224-6.
2006
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| 20 | SCN1A, SMEI2, GEFSP2
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| SCN1A mutations and epilepsy.
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| Mulley JC, Scheffer IE, Petrou S, Dibbens LM, Berkovic SF, Harkin LA.
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| Hum Mutat 25(6):535-42. 2005
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| 21 | SCN1A, GEFSP2, SMEI2
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| SCN1A mutation analysis in myoclonic astatic epilepsy and severe idiopathic generalized epilepsy of infancy with generalized tonic-clonic seizures.
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| Ebach K, Joos H, Doose H, Stephani U, Kurlemann G, Fiedler B, Hahn A, Hauser E, Hundt K, Holthausen H, Muller U, Neubauer BA.
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| Neuropediatrics 36(3):210-3. 2005
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| 22 | SCN1A,SMEI2
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| A missense mutation in SCN1A in brothers with severe myoclonic epilepsy in infancy (SMEI) inherited from a father with febrile seizures.
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| Kimura K, Sugawara T, Mazaki-Miyazaki E, Hoshino K, Nomura Y, Tateno A, Hachimori K, Yamakawa K, Segawa M.
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| Brain Dev 27(6):424-30. Epub 2005 Jan 12. 2005
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| 23 | SCN1A, SMEI2
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| 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).
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| Fukuma G, Oguni H, Shirasaka Y, Watanabe K, Miyajima T, Yasumoto S, Ohfu M, Inoue T, Watanachai A, Kira R, Matsuo M, Muranaka H, Sofue F, Zhang B, Kaneko S, Mitsudome A, Hirose S.
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| Epilepsia 45(2):140-8. 2004
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| 24 | SCN1A, SMEI2
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| Spectrum of SCN1A mutations in severe myoclonic epilepsy of infancy.
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| Nabbout R, Gennaro E, Dalla Bernardina B, Dulac O, Madia F, Bertini E, Capovilla G, Chiron C, Cristofori G, Elia M, Fontana E, Gaggero R, Granata T, Guerrini R, Loi M, La Selva L, Lispi ML, Matricardi A, Romeo A, Tzolas V, Valseriati D, Veggiotti P, Vigevano F, Vallee L, Dagna Bricarelli F, Bianchi A, Zara F.
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| Neurology 60(12):1961-7. 2003
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| 25 | SMEI2, SCN1A
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| Sodium channel alpha1-subunit mutations in severe myoclonic epilepsy of infancy and infantile spasms.
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| Wallace RH, Hodgson BL, Grinton BE, Gardiner RM, Robinson R, Rodriguez-Casero V, Sadleir L, Morgan J, Harkin LA, Dibbens LM, Yamamoto T, Andermann E, Mulley JC, Berkovic SF, Scheffer IE.
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| Neurology 61(6):765-9. 2003
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| 26 | SCN1A, SMEI2
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| Frequent mutations of SCN1A in severe myoclonic epilepsy in infancy.
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| Sugawara T, Mazaki-Miyazaki E, Fukushima K, Shimomura J, Fujiwara T, Hamano S, Inoue Y, Yamakawa K.
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| Neurology 58(7):1122-4. 2002
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| 27 | SCN1A, SMEI2
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| Significant correlation of the SCN1A mutations and severe myoclonic epilepsy in infancy.
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| Ohmori I, Ouchida M, Ohtsuka Y, Oka E, Shimizu K.
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| Biochem Biophys Res Commun 295(1):17-23. 2002
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