Investigating the genetic basis of fever-associated syndromic epilepsies using copy number variation analysis

Epilepsia

Volumn 56, Issue 3, 2015, Pages e26-e32

  Hartmann, Corinna ^a   Von Spiczak, Sarah ^a,b   Suls, Arvid ^c,d   Weckhuysen, Sarah ^c,d   Buyse, Gunnar ^e   Vilain, Catheline ^f   Van Bogaert, Patrick ^f   De Jonghe, Peter ^c,d,g   Cook, Joseph ^h   Muhle, Hiltrud ^a   Stephani, Ulrich ^a,b   Helbig, Ingo ^a   Mefford, Heather C ^h  

^a UNIVERSITY HOSPITAL SCHLESWIG HOLSTEIN   (Germany)

^b DRK Northern German Epilepsy Centre for Children and Adolescents   (Germany)

^c DEPARTMENT OF PLANT SYSTEMS BIOLOGY   (Belgium)

^d UNIVERSITY OF ANTWERP   (Belgium)

^e UNIVERSITY HOSPITALS LEUVEN   (Belgium)

^f FREE UNIVERSITY OF BRUSSELS   (Belgium)

^g ANTWERP UNIVERSITY HOSPITAL   (Belgium)

^h UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

Author keywords

Copy number variation; Dravet syndrome; Febrile seizures plus; Fever associated syndromic epilepsy; SCN1A negative

Indexed keywords

GENOMIC DNA; SODIUM CHANNEL NAV1.1; SCN1A PROTEIN, HUMAN;

ARTICLE; AUTISM; CLINICAL ARTICLE; COMPARATIVE GENOMIC HYBRIDIZATION; COPY NUMBER VARIATION; DISEASE ASSOCIATION; EPILEPSY; FEBRILE CONVULSION; FEBRILE SEIZURES PLUS; FEVER; GENETIC ASSOCIATION; GENETIC DISORDER; GENETIC EPILEPSY WITH FEBRILE SEIZURES PLUS; HUMAN; INTELLECTUAL IMPAIRMENT; PATHOGENICITY; PHENOTYPE; PRIORITY JOURNAL; SEVERE MYOCLONIC EPILEPSY IN INFANCY; SYNDROME; ADOLESCENT; ADULT; CHILD; CHROMOSOME ABERRATION; CHROMOSOME DELETION; COMPLICATION; FEMALE; GENETIC ASSOCIATION STUDY; GENETICS; MALE; MIDDLE AGED; PRESCHOOL CHILD; YOUNG ADULT;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; CHROMOSOME ABERRATIONS; CHROMOSOME DELETION; COMPARATIVE GENOMIC HYBRIDIZATION; DNA COPY NUMBER VARIATIONS; EPILEPSY; FEMALE; FEVER; GENETIC ASSOCIATION STUDIES; HUMANS; MALE; MIDDLE AGED; NAV1.1 VOLTAGE-GATED SODIUM CHANNEL; PHENOTYPE; YOUNG ADULT;

EID: 84924980404     PISSN: 00139580     EISSN: 15281167     Source Type: Journal    
DOI: 10.1111/epi.12920     Document Type: Article

References (16)

1. Baulac S, Gourfinkel-An I, Nabbout R, et al. Fever, genes, and epilepsy. Lancet Neurol 2004; 3: 421-430.
2. Marini C, Scheffer IE, Nabbout R, et al. The genetics of Dravet syndrome. Epilepsia 2011; 52 (Suppl. 2): 24-29.
3. Marini C, Scheffer IE, Nabbout R, et al. SCN1A duplications and deletions detected in Dravet syndrome: implications for molecular diagnosis. Epilepsia 2009; 50: 1670-1678.
4. Mefford HC, Yendle SC, Hsu C, et al. Rare copy number variants are an important cause of epileptic encephalopathies. Ann Neurol 2011; 70: 974-985.
5. Mefford HC, Muhle H, Ostertag P, et al. Genome-wide copy number variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsies. PLoS Genet 2010; 6: e1000962.
6. Hardies K, Weckhuysen S, Peeters E, et al. Duplications of 17q12 can cause familial fever-related epilepsy syndromes. Neurology 2013; 81: 1434-1440.
7. de Vries BB, Pfundt R, Leisink M, et al. Diagnostic genome profiling in mental retardation. Am J Hum Genet 2005; 77: 606-616.
8. International Schizophrenia Consortium. Rare chromosomal deletions and duplications increase risk of schizophrenia. Nature 2008; 455: 237-241.
9. Sebat J, Lakshmi B, Malhotra D, et al. Strong association of de novo copy number mutations with autism. Science 2007; 316: 445-449.
10. Doose H, Lunau H, Castiglione E, et al. Severe idiopathic generalized epilepsy of infancy with generalized tonic-clonic seizures. Neuropediatrics 1998; 29: 229-238.
11. Itsara A, Cooper GM, Baker C, et al. Population analysis of large copy number variants and hotspots of human genetic disease. Am J Hum Genet 2009; 84: 148-161.
12. Shaikh TH, Gai X, Perin JC, et al. High-resolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applications. Genome Res 2009; 19: 1682-1690.
13. Miller DT, Adam MP, Aradhya S, et al. Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am J Hum Genet 2010; 86: 749-764.
14. Spreiz A, Haberlandt E, Baumann M, et al. Chromosomal microaberrations in patients with epilepsy, intellectual disability, and congenital anomalies. Clin Genet 2014; 86: 361-366.
15. Mullen SA, Carvill GL, Bellows S, et al. Copy number variants are frequent in genetic generalized epilepsy with intellectual disability. Neurology 2013; 81: 1507-1514.
16. Daseking M, Petermann U, Petermann F,. (2007) Intelligenzdiagnostik mit dem HAWIK-IV [Assessment of intelligence with the HAWIK-IV]. Kindheit und Entwicklung 16: 250-259.