Juvenile myoclonic epilepsy with photosensitivity in a female with Velocardiofacial syndrome (del(22)(q11.2))-Causal relationship or coincidence?

Seizure

Volumn 18, Issue 9, 2009, Pages 660-663

  Lemke, Johannes R ^a,b   Beck Wödl, Stefanie ^b   Zankl, Andreas ^c   Riegel, Mariluce ^c   Krämer, Günter ^a   Dorn, Thomas ^a  

^a SWISS EPILEPSY CENTER   (Switzerland)

^b UNIVERSITY OF TÜBINGEN   (Germany)

^c UNIVERSITY OF ZURICH   (Switzerland)

Author keywords

22q11.2; DiGeorge syndrome; JME; Microdeletion

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; CASE REPORT; CHROMOSOME 22Q; CHROMOSOME ABERRATION; CHROMOSOME DELETION; CLINICAL FEATURE; CORRELATION ANALYSIS; FEMALE; GENETIC DISORDER; HUMAN; JUVENILE MYOCLONIC EPILEPSY; MENTAL DISEASE; MYOCLONUS EPILEPSY; PHENOTYPE; PHOTOSENSITIVITY; PRIORITY JOURNAL; VELOCARDIOFACIAL SYNDROME; CHROMOSOME 22; DIGEORGE SYNDROME; ELECTROENCEPHALOGRAPHY; GENETICS; HEART SEPTUM DEFECT; PATHOPHYSIOLOGY; REFLEX EPILEPSY;

ADOLESCENT; CHROMOSOMES, HUMAN, PAIR 22; DIGEORGE SYNDROME; ELECTROENCEPHALOGRAPHY; EPILEPSY, REFLEX; FEMALE; HEART SEPTAL DEFECTS, VENTRICULAR; HUMANS; MYOCLONIC EPILEPSY, JUVENILE;

EID: 73349131760     PISSN: 10591311     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.seizure.2009.07.008     Document Type: Article

References (23)

1. Schinzel A., and Niedrist D. Chromosome imbalances associated with epilepsy. Am J Med Genet 106 (2001) 119-124
2. 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
3. Battaglia A., and Guerrini R. Chromosomal disorders associated with epilepsy. Epileptic Disord 7 (2005) 181-192
4. Bai D., Alonso M.E., Medina M.T., Bailey J.N., Morita R., Cordova S., et al. Juvenile myoclonic epilepsy: linkage to chromosome 6p12 in Mexico families. Am J Med Genet 113 (2002) 268-274
5. Escayg A., De Waard M., Lee D.D., Bichet D., Wolf P., Mayer T., et al. Coding and noncoding variation of the human calcium-channel beta(4)-subunit gene CACNB4 in patients with idiopathic generalized epilepsy and episodic ataxia. Am J Hum Genet 66 (2000) 1531-1539
6. Haug K., Warnstedt M., Alekov A.K., Sander T., Ramirez A., Poser B., et al. Mutations in CLCN2 encoding a voltage-gated chloride channel are associated with idiopathic generalized epilepsies. Nat Genet 33 (2003) 527-532
7. Cossette P., Liu L., Brisebois K., Dong H., Lortie A., Vanasse M., et al. Mutation of GABRA1 in an autosomal dominant form of juvenile myoclonic epilepsy. Nat Genet 31 (2002) 184-189
8. Suzuki T., Delgado-Escueta A.V., Aguan K., Alonso M.E., Shi J., Hara Y., et al. Mutations in EFHC1 cause juvenile myoclonic epilepsy. Nat Genet 36 (2004) 842-849
9. Dibbens L.M., Feng H.-J., Richards M.C., Harkin L.A., Hodgson B.L., Scott D., et al. GABRD encoding a protein for extra- or peri-synaptic GABA-A receptors is a susceptibility locus for generalized epilepsies. Hum Mol Genet 13 (2004) 1315-1319
10. Kapoor A., Ratnapriya R., Kuruttukulam G., and Anand A. A novel genetic locus for juvenile myoclonic epilepsy at chromosome 5q12-q14. Hum Genet 121 (2007) 655-662
11. Pal D.K., Evgrafov O.V., Tabares P., Zhang F., Durner M., and Greenberg D.A. BRD2 (RING3) is a probable major susceptibility gene for common juvenile myoclonic epilepsy. Am J Hum Genet 73 (2003) 261-270
12. Elmslie F.V., Rees M., Williamson M.P., Kerr M., Kjeldsen M.J., Pang K.A., et al. Genetic mapping of a major susceptibility locus for juvenile myoclonic epilepsy on chromosome 15q. Hum Mol Genet 6 (1997) 1329-1334
13. Smith D.W., and Jones K.L. Smith's Recognizable Patterns Of Human Malformation. 6th ed. (2005), Elsevier Saunders, Philadelphia, PA
14. Kao A., Mariani J., McDonald-McGinn D.M., Maisenbacher M.K., Brooks-Kayal A.R., Zackai E.H., et al. Increased prevalence of unprovoked seizures in patients with a 22q11.2 deletion. Am J Med Genet A 129 (2004) 29-34
15. Coppola G., Sciscio N., Russo F., Caliendo G., and Pascotto A. Benign idiopathic partial seizures in the velocardiofacial syndrome: report of two cases. Am J Med Genet 103 (2001) 172-175
16. Xiong L., Labuda M., Li D.S., Hudson T.J., Desbiens R., Patry G., et al. Mapping of a gene determining familial partial epilepsy with variable foci to chromosome 22q11-q12. Am J Hum Genet 65 (1999) 1698-1710
17. Berkovic S.F., Serratosa J.M., Phillips H.A., Xiong L., Andermann E., Díaz-Otero F., et al. Familial partial epilepsy with variable foci: clinical features and linkage to chromosome 22q12. Epilepsia 45 (2004) 1054-1060
18. Roubertie A., Semprino M., Chaze A.M., Rivier F., Humbertclaude V., Cheminal R., et al. Neurological presentation of three patients with 22q11 deletion (CATCH 22 syndrome). Brain Dev 23 (2001) 810-814
19. El Tahir M.O., Kerr M., and Jones R.G. Two cases of generalized seizures and the Velocardiofacial syndrome-a clinically significant association?. J Intellect Disabil Res 48 (2004) 695-698
20. Baralle D., Trump D., Ffrench-Constant C., and Dick D.J. Myoclonic movement disorder associated with microdeletion of chromosome 22q11. J Neurol Neurosurg Psychiatry 73 (2002) 600-601
21. Durner M., Keddache M.A., Tomasini L., Shinnar S., Resor S.R., Cohen J., et al. Genome scan of idiopathic generalized epilepsy: evidence for major susceptibility gene and modifying genes influencing the seizure type. Ann Neurol 49 (2001) 328-335
22. Sander T., Schulz H., Saar K., Gennaro E., Riggio M.C., Bianchi A., et al. Genome search for susceptibility loci of common idiopathic generalised epilepsies. Hum Mol Genet 9 (2000) 1465-1472
23. Su Y.H., Izumi T., Kitsu M., and Fukuyama Y. Seizure threshold in juvenile myoclonic epilepsy with Graves disease. Epilepsia 34 (1993) 488-492