| 1 | DEl2Q24, SCN1A, SCN2A, SCN3A
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| Duplication of the sodium channel gene cluster on 2q24 in children with early onset epilepsy.
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| Goeggel Simonetti B, Rieubland C, Courage C, Strozzi S, Tschumi S, Gallati S, Lemke JR.
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| Epilepsia pilepsia. 2012 Sep 27. doi: 10.1111/j.1528-1167.2012.03676.x. [Epub ahead of print]
2012
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| 2 | DEL2Q24, SCN1A
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| Refractory neonatal epilepsy with a de novo duplication of chromosome 2q24.2q24.3.
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| Okumura A, Yamamoto T, Shimojima K, Honda Y, Abe S, Ikeno M, Shimizu T.
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| Epilepsia 52(7):e66-9. doi: 10.1111/j.1528-1167.2011.03139.x. Epub 2011 Jun 21.
2011
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| 3 | DEl2Q24, SCN1A, SCN2A, SCN3A
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| An interstitial duplication at 2q24.3 involving the SCN1A, SCN2A, SCN3A genes associated with infantile epilepsy.
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| Raymond G, Wohler E, Dinsmore C, Cox J, Johnston M, Batista D, Wang T.
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| Am J Med Genet A 155A(4):920-3. doi: 10.1002/ajmg.a.33929. Epub 2011 Mar 17. No abstract available.
2011
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| 4 | DEL2Q24, ITGB6
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| Severe pulmonary emphysema in a girl with interstitial deletion of 2q24.2q24.3 including ITGB6.
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| Takatsuki S, Nakamura R, Haga Y, Mitsui K, Hashimoto T, Shimojima K, Saji T, Yamamoto T.
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| Am J Med Genet A 152A(4):1020-5.PMID: 20358620 2010
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| 5 | DEL2Q24, DUP2Q24, SCN1A
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| Familial neonatal seizures with intellectual disability caused by a microduplication of chromosome 2q24.3.
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| Heron SE, Scheffer IE, Grinton BE, Eyre H, Oliver KL, Bain S, Berkovic SF, Mulley JC.
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| Epilepsia pilepsia. 2010 Apr 2. [Epub ahead of print]PMID: 20384724 2010
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| 6 | DEL2Q24, SLC4A10
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| Two distinct regions in 2q24.2-q24.3 associated with idiopathic epilepsy.
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| Krepischi AC, Knijnenburg J, Bertola DR, Kim CA, Pearson PL, Bijlsma E, Szuhai K, Kok F, Vianna-Morgante AM, Rosenberg C.
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| Epilepsia 51(12):2457-60. doi: 10.1111/j.1528-1167.2010.02742.x. Epub 2010 Sep 30.
2010
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| 7 | 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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| 8 | DEL2Q24
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| Epilepsy and electroencephalographic anomalies in chromosome 2 aberrations. A review.
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| Grosso S, Pucci L, Curatolo P, Coppola G, Bartalini G, Di Bartolo R, Scarinci R, Renieri A, Balestri P.
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| Epilepsy Res 79(1):63-70. Epub 2008 Feb 20. Review.
2008
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| 9 | 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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| 10 | 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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| 11 | 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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| 12 | DEL2Q24, SCN1A
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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 81(1):69-79. Epub 2008 Jun 9.
2008
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| 13 | 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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