Familial neonatal seizures with intellectual disability caused by a microduplication of chromosome 2q24.3

被引：29

作者：

Heron, Sarah E. ^{[1
,2
]}

Scheffer, Ingrid E. ^{[3
,4
]}

Grinton, Bronwyn E. ^{[3
]}

Eyre, Helen ^{[1
]}

Oliver, Karen L. ^{[3
]}

Bain, Sharon ^{[1
]}

Berkovic, Samuel F. ^{[3
]}

Mulley, John C. ^{[1
,2
,5
]}

机构：

[1] Womens & Childrens Hosp, SA Pathol, Adelaide, SA 5006, Australia

[2] Univ Adelaide, Sch Paediat & Reprod Hlth, Adelaide, SA, Australia

[3] Univ Melbourne & Austin Hlth, Dept Med Neurol, Melbourne, Vic, Australia

[4] Univ Melbourne, Dept Paediat, Royal Childrens Hosp, Melbourne, Vic, Australia

[5] Univ Adelaide, Sch Mol & Biomed Sci, Adelaide, SA, Australia

来源：

EPILEPSIA | 2010年 / 51卷 / 09期

基金：

英国医学研究理事会;

关键词：

Epilepsy; Intellectual disability; Microduplication; Neonatal Seizures; Voltage-gated sodium channel; INFANTILE SEIZURES; BENIGN; CONVULSIONS; MUTATIONS; DIAGNOSIS; GENETICS; EPILEPSY;

D O I：

10.1111/j.1528-1167.2010.02558.x

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

P>A family with dominantly inherited neonatal seizures and intellectual disability was atypical for neonatal and infantile seizure syndromes associated with potassium (KCNQ2 and KCNQ3) and sodium (SCN2A) channel mutations. Microsatellite markers linked to KCNQ2, KCNQ3, and SCN2A were examined to exclude candidate locations, but instead revealed a duplication detected by observation of three alleles for two markers flanking SCN2A. Characterization revealed a 1.57 Mb duplication at 2q24.3 containing eight genes including SCN2A, SCN3A, and the 3' end of SCN1A. The duplication was partially inverted and inserted within or near SCN1A, probably affecting the expression levels of associated genes, including sodium channels. Rare or unique microchromosomal copy number mutations might underlie familial epilepsies that do not fit within the clinical criteria for the established syndromes.

引用

页码：1865 / 1869

页数：5

共 12 条

[1] Molecular genetics of infantile nervous system channelopathies [J].

Gardiner, Mark .

EARLY HUMAN DEVELOPMENT, 2006, 82 (12) :775-779

[2] SCN2A mutations and benign familial neonatal-infantile seizures:: The phenotypic spectrum [J].

Herlenius, Eric ;

Heron, Sarah E. ;

Grinton, Bronwyn E. ;

Keay, Deborah ;

Scheffer, Ingrid E. ;

Mulley, John C. ;

Berkovic, Samuel F. .

EPILEPSIA, 2007, 48 (06) :1138-1142

[3] Sodium-channel defects in benign familial neonatal-infantile seizures [J].

Heron, SE ;

Crossland, KM ;

Andermann, E ;

Phillips, HA ;

Hall, AJ ;

Bleasel, A ;

Shevell, M ;

Mercho, S ;

Seni, MH ;

Guiot, MC ;

Mulley, JC ;

Berkovic, SF ;

Scheffer, IE .

LANCET, 2002, 360 (9336) :851-852

[4] Mutation of sodium channel SCN3A in a patient with cryptogenic pediatric partial epilepsy [J].

Holland, Katherine D. ;

Kearney, Jennifer A. ;

Glauser, Tracy A. ;

Buck, Gerri ;

Keddache, Mehdi ;

Blankston, John R. ;

Glaaser, Ian W. ;

Kass, Robert S. ;

Meisler, Miriam H. .

NEUROSCIENCE LETTERS, 2008, 433 (01) :65-70

[5] A set of BAC clones spanning the human genome [J].

Krzywinski, M ;

Bosdet, I ;

Smailus, D ;

Chiu, R ;

Mathewson, C ;

Wye, N ;

Barber, S ;

Brown-John, M ;

Chan, S ;

Chand, S ;

Cloutier, A ;

Girn, N ;

Lee, D ;

Masson, A ;

Mayo, M ;

Olson, T ;

Pandoh, P ;

Prabhu, AL ;

Schoenmakers, E ;

Tsai, M ;

Albertson, D ;

Lam, W ;

Choy, CO ;

Osoegawa, K ;

Zhao, SY ;

de Jong, PJ ;

Schein, J ;

Jones, S ;

Marra, MA .

NUCLEIC ACIDS RESEARCH, 2004, 32 (12) :3651-3660

[6] SCN1A duplications and deletions detected in Dravet syndrome: Implications for molecular diagnosis [J].

Marini, Carla ;

Scheffer, Ingrid E. ;

Nabbout, Rima ;

Mei, Davide ;

Cox, Kathy ;

Dibbens, Leanne M. ;

McMahon, Jacinta M. ;

Iona, Xenia ;

Sanchez Carpintero, Rochio ;

Elia, Maurizio ;

Cilio, Maria Roberta ;

Specchio, Nicola ;

Giordano, Lucio ;

Striano, Pasquale ;

Gennaro, Elena ;

Cross, J. Helen ;

Kivity, Sara ;

Neufeld, Miriam Y. ;

Afawi, Zaid ;

Andermann, Eva ;

Keene, Daniel ;

Dulac, Olivier ;

Zara, Federico ;

Berkovic, Samuel F. ;

Guerrini, Renzo ;

Mulley, John C. .

EPILEPSIA, 2009, 50 (07) :1670-1678

[7] Duplication hotspots, rare genomic disorders, and common disease [J].

Mefford, Heather C. ;

Eichler, Evan E. .

CURRENT OPINION IN GENETICS & DEVELOPMENT, 2009, 19 (03) :196-204

[8]

Mullen SA, 2009, ARCH NEUROL-CHICAGO, V66, P21, DOI 10.1001/archneurol.2008.559

[9] VALIDATION OF A QUESTIONNAIRE FOR CLINICAL SEIZURE DIAGNOSIS [J].

REUTENS, DC ;

HOWELL, RA ;

GEBERT, KE ;

BERKOVIC, SF .

EPILEPSIA, 1992, 33 (06) :1065-1071

[10] SEIZURE CHARACTERISTICS IN CHROMOSOME 20 BENIGN FAMILIAL NEONATAL CONVULSIONS [J].

RONEN, GM ;

ROSALES, TO ;

CONNOLLY, M ;

ANDERSON, VE ;

LEPPERT, M .

NEUROLOGY, 1993, 43 (07) :1355-1360

← 1 2 →