Chromosomal abnormality at 6p25.1-25.3 identifies a susceptibility locus for hypothalamic hamartoma associated with epilepsy

Epilepsy Research

Volumn 75, Issue 1, 2007, Pages 70-73

  Kerrigan, John F ^a   Kruer, Michael C ^b,c   Corneveaux, Jason ^b   Panganiban, Corrie B ^b   Itty, Abraham ^b   Reiman, David ^b   Ng, Yu tze ^a   Stephan, Dietrich A ^b   Craig, David W ^b  

^a BARROW NEUROLOGICAL INSTITUTE   (United States)

^b TRANSLATIONAL GENOMICS RESEARCH INSTITUTE   (United States)

^c PHOENIX CHILDREN'S HOSPITAL   (United States)

Author keywords

Epilepsy; Gelastic seizures; Hypothalamic hamartoma; Susceptibility locus

Indexed keywords

ANTICONVULSIVE AGENT; DNA; TRANSCRIPTION FACTOR FOXC1;

ANTICONVULSANT THERAPY; ARTICLE; BRAIN THIRD VENTRICLE; CASE REPORT; CHILD; CHROMOSOME 6P; ELECTROENCEPHALOGRAM; EPILEPSY; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GELASTIC SEIZURE; GENE LOCUS; GENE MUTATION; GENETIC SUSCEPTIBILITY; GENOTYPE; HAMARTOMA; HUMAN; HYPOTHALAMIC HAMARTOMA; HYPOTHALAMUS; KARYOTYPE; NUCLEAR MAGNETIC RESONANCE IMAGING; PATHOGENESIS; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; SOMATIC MUTATION; TREATMENT OUTCOME;

CHILD; CHROMOSOME ABERRATIONS; CHROMOSOME DISORDERS; CHROMOSOMES, HUMAN, PAIR 6; DISEASE SUSCEPTIBILITY; EPILEPSY; FEMALE; FORKHEAD TRANSCRIPTION FACTORS; HAMARTOMA; HUMANS; HYPOTHALAMIC DISEASES; IN SITU HYBRIDIZATION, FLUORESCENCE; MAGNETIC RESONANCE IMAGING; MICROARRAY ANALYSIS; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 34249901578     PISSN: 09201211     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.eplepsyres.2007.04.002     Document Type: Article

References (18)

1. Berkovic S.F., Andermann F., Melanson D., Ethier R.E., Feindel W., and Gloor P. Hypothalamic hamartomas and ictal laughter: evolution of a characteristic epileptic syndrome and diagnostic value of magnetic resonance imaging. Ann. Neurol. 23 (1988) 429-439
2. Beroukhim R., Lin M., Park Y., Hao K., Zhao X., Garraway L.A., Fox E.A., Hochberg E.P., Mellinghoff I.K., Hofer M.D., Descazeaud A., Rubin M.A., Meyerson M., Wong W.H., Sellers W.R., and Li C. Inferring loss-of-heterozygosity from unpaired tumors using high-density oligonucleotide SNP arrays. PLoS Comput. Biol. 2 (2006) e41
3. Biervert C., Schroeder B.C., Kubisch C., Berkovic S.F., Propping P., Jentsch T.J., and Steinlein O.K. A potassium channel mutation in neonatal human epilepsy. Science 279 (1998) 403-406
4. Biesecker L.G., Abbott M., Allen J., Clericuzio C., Feuillan P., Graham Jr. J.M., Hall J., Kang S., Olney A.H., Lefton D., Neri G., Peters K., and Verloes A. Report from the workshop on Pallister-Hall syndrome and related phenotypes. Am. J. Med. Genet. 65 (1996) 76-81
5. Brandberg G., Raininko R., and Eeg-Olofsson O. Hypothalamic hamartoma with gelastic seizures in Swedish children and adolescents. Eur. J. Paediatr. Neurol. 8 (2004) 35-44
6. Capone G.T. Down syndrome: advances in molecular biology and the neurosciences. J. Dev. Behav. Pediatr. 22 (2001) 40-59
7. Craig D.W., and Stephan D.A. Applications of whole-genome high-density SNP genotyping. Expert Rev. Mol. Diagn. 5 (2005) 159-170
8. Kang S., Graham Jr. J.M., Olney A.H., and Biesecker L.G. GLI3 frameshift mutations cause autosomal dominant Pallister-Hall syndrome. Nat. Genet. 15 (1997) 266-268
9. Kelberman D., Rizzoti K., Avilion A., Bitner-Glindzicz M., Cianfarani S., Collins J., Chong W.K., Kirk J.M.W., Achermann J.C., Ross R., Carmignac D., Lovell-Badge R., Robinson I.C.A.F., and Dattani M.T. Mutations within Sox2/SOX2 are associated with abnormalities in the hypothalamo-pituitary-gonadal axis in mice and humans. J. Clin. Invest. 116 (2006) 2442-2455
10. Lehmann O.J., Ebenezer N.D., Jordan T., Fox M., Ocaka L., Payne A., Leroy B.P., Clark B.J., Hitchings R.A., Povey S., Khaw P.T., and Bhattacharya S.S. Chromosomal duplication involving the forkhead transcription factor gene FOXC1 causes iris hypoplasia and glaucoma. Am. J. Hum. Genet. 67 (2000) 1129-1135
11. Leppert M., Anderson V.E., Quattlebaum T., Stauffer D., O'Connell P., Nakamura Y., Lalouel J.M., and White R. Benign familial neonatal convulsions linked to genetic markers on chromosome 20. Nature 337 (1989) 647-648
12. Nishimura D.Y., Searby C.C., Alward W.L., Walton D., Craig J.E., Mackey D.A., Kawase K., Kanis A.B., Patil S.R., Stone E.M., and Sheffield V.C. A spectrum of FOXC1 mutations suggests gene dosage as a mechanism for developmental defects of the anterior chamber of the eye. Am. J. Hum. Genet. 68 (2001) 364-372
13. Rogawski M.A. KCNQ2/KCNQ3 K+ channels and the molecular pathogenesis of epilepsy: implications for therapy. Trends Neurosci. 23 (2000) 393-398
14. Schinzel A. Catalogue of Unbalanced Chromosome Aberrations in Man (2001), Walter de Gruyter, New York
15. Shaw-Smith C., Redon R., Rickman L., Rio M., Willatt L., Fiegler H., Firth H., Sanlaville D., Winter R., Colleaux L., Bobrow M., and Carter N.P. Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features. J. Med. Genet. 41 (2004) 241-248
16. Singh R., Gardner R.J., Crossland K.M., Scheffer I.E., and Berkovic S.F. Chromosomal abnormalities and epilepsy: a review for clinicians and gene hunters. Epilepsia 43 (2002) 127-140
17. Slater H.R., Bailey D.K., Ren H., Cao M., Bell K., Nasioulas S., Henke R., Choo K.H., and Kennedy G.C. High-resolution identification of chromosomal abnormalities using oligonucleotide arrays containing 116, 204 SNPs. Am. J. Hum. Genet. 77 (2005) 709-726
18. Wilson G.M., Flibotte S., Chopra V., Melnyk B.L., Honer W.G., and Holt R.A. DNA copy-number analysis in bipolar disorder and schizophrenia reveals aberrations in genes involved in glutamate signalling. Hum. Mol. Genet. 15 (2006) 743-749