Citations for
1DEl2Q24, SCN1A, SCN2A, SCN3A
Duplication of the sodium channel gene cluster on 2q24 in children with early onset epilepsy.
Goeggel Simonetti B, Rieubland C, Courage C, Strozzi S, Tschumi S, Gallati S, Lemke JR.
Epilepsia pilepsia. 2012 Sep 27. doi: 10.1111/j.1528-1167.2012.03676.x. [Epub ahead of print] 2012
2DEL2Q24, SCN1A
Refractory neonatal epilepsy with a de novo duplication of chromosome 2q24.2q24.3.
Okumura A, Yamamoto T, Shimojima K, Honda Y, Abe S, Ikeno M, Shimizu T.
Epilepsia 52(7):e66-9. doi: 10.1111/j.1528-1167.2011.03139.x. Epub 2011 Jun 21. 2011
3DEl2Q24, SCN1A, SCN2A, SCN3A
An interstitial duplication at 2q24.3 involving the SCN1A, SCN2A, SCN3A genes associated with infantile epilepsy.
Raymond G, Wohler E, Dinsmore C, Cox J, Johnston M, Batista D, Wang T.
Am J Med Genet A 155A(4):920-3. doi: 10.1002/ajmg.a.33929. Epub 2011 Mar 17. No abstract available. 2011
4DEL2Q24, ITGB6
Severe pulmonary emphysema in a girl with interstitial deletion of 2q24.2q24.3 including ITGB6.
Takatsuki S, Nakamura R, Haga Y, Mitsui K, Hashimoto T, Shimojima K, Saji T, Yamamoto T.
Am J Med Genet A 152A(4):1020-5.PMID: 20358620 2010
5DEL2Q24, DUP2Q24, SCN1A
Familial neonatal seizures with intellectual disability caused by a microduplication of chromosome 2q24.3.
Heron SE, Scheffer IE, Grinton BE, Eyre H, Oliver KL, Bain S, Berkovic SF, Mulley JC.
Epilepsia pilepsia. 2010 Apr 2. [Epub ahead of print]PMID: 20384724 2010
6DEL2Q24, SLC4A10
Two distinct regions in 2q24.2-q24.3 associated with idiopathic epilepsy.
Krepischi AC, Knijnenburg J, Bertola DR, Kim CA, Pearson PL, Bijlsma E, Szuhai K, Kok F, Vianna-Morgante AM, Rosenberg C.
Epilepsia 51(12):2457-60. doi: 10.1111/j.1528-1167.2010.02742.x. Epub 2010 Sep 30. 2010
7DEl2Q24, GEFSP2, SCN1A, SCN2A, SCN3A, SMEI1, SMEI2
SCN1A duplications and deletions detected in Dravet syndrome: implications for molecular diagnosis.
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.
Epilepsia 50(7):1670-8. Epub 2009 Mar 12. 2009
8DEL2Q24
Epilepsy and electroencephalographic anomalies in chromosome 2 aberrations. A review.
Grosso S, Pucci L, Curatolo P, Coppola G, Bartalini G, Di Bartolo R, Scarinci R, Renieri A, Balestri P.
Epilepsy Res 79(1):63-70. Epub 2008 Feb 20. Review. 2008
9SCN1A, DEL2Q24, SMEI2
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.
Davidsson J, Collin A, Olsson ME, Lundgren J, Soller M.
Epilepsy Res pilepsy Res. 2008 Jun 6. [Epub ahead of print] 2008
10SCN1A, DEL2Q24, SMEI2
Microchromosomal deletions involving SCN1A and adjacent genes in severe myoclonic epilepsy in infancy.
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.
Epilepsia pilepsia. 2008 May 8. [Epub ahead of print] 2008
11SCN1A, DEL2Q24, SMEI2
Balanced translocation in a patient with severe myoclonic epilepsy of infancy disrupts the sodium channel gene SCN1A.
Mller RS, Schneider LM, Hansen CP, Bugge M, Ullmann R, Tommerup N, Tmer Z.
Epilepsia 49(6):1091-4. Epub 2008 Feb 20. 2008
12DEL2Q24, SCN1A
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.
Davidsson J, Collin A, Olsson ME, Lundgren J, Soller M.
Epilepsy Res 81(1):69-79. Epub 2008 Jun 9. 2008
13SCN1A, SMEI2, DEL2Q24
Microdeletions involving the SCN1A gene may be common in SCN1A-mutation-negative SMEI patients.
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.
Hum Mutat 27(9):914-20. 2006