More severe epilepsy and cognitive impairment in the offspring of a mother with mosaicism for the ring 20 chromosome

Epilepsy Research

Volumn 73, Issue 1, 2007, Pages 122-128

  Herrgård, Eila ^a,b   Mononen, Tarja ^c   Mervaala, Esa ^a,c   Kuusela, Liisa ^b   Äikiä, Marja ^a,d   Stenbäck, Ulla ^e   Pääkkönen, Leena ^b   Airaksinen, Raija Liisa ^c   Kälviäinen, Reetta ^a,d  

^a Kuopio Psychiatric Center   (Finland)

^b Division of Pediatric Neurology   (Finland)

^c Department of Clinical Genetics ^*  (Finland)

^d KUOPIO UNIVERSITY HOSPITAL   (Finland)

^e Rehabilitation Resource Center   (Finland)

Author keywords

Antiepileptic drug; Cognition; Cognitive impairment; Epilepsy; Ring chromosome 20; Ring chromosome 20 syndrome

Indexed keywords

CARBAMAZEPINE; ETHOSUXIMIDE; ETIRACETAM; LAMOTRIGINE; PHENYTOIN; TIAGABINE; TOPIRAMATE; VALPROIC ACID; VIGABATRIN;

ADOLESCENT; ADULT; ARTICLE; BEHAVIOR; BEHAVIOR DISORDER; CASE REPORT; CHROMOSOME 20; CLINICAL FEATURE; COGNITION; COGNITIVE DEFECT; DAUGHTER; DRUG RESPONSE; EDUCATION PROGRAM; EPILEPSY; FAMILY; FATIGUE; FEMALE; GENETIC TRAIT; GROWTH; HUMAN; HUMAN CELL; INTELLIGENCE; LEARNING DISORDER; MALE; MENTAL DETERIORATION; MOTHER; NERVE STIMULATION; NEUROPSYCHOLOGICAL TEST; PHENOTYPE; PRIORITY JOURNAL; PROGENY; PSYCHOMOTOR DEVELOPMENT; RING CHROMOSOME; SEIZURE; SEX CHROMOSOME MOSAICISM; TREMOR; VAGUS NERVE; WORK CAPACITY;

ADOLESCENT; ADULT; CHROMOSOMES, HUMAN, PAIR 20; COGNITION DISORDERS; ELECTROENCEPHALOGRAPHY; EPILEPSY; FEMALE; HUMANS; LEARNING DISORDERS; MALE; MOSAICISM; RING CHROMOSOMES;

EID: 33846070729     PISSN: 09201211     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.eplepsyres.2006.09.006     Document Type: Article

References (17)

1. Atkins L., Miller W.L., and Salam M. A ring-20 chromosome. J. Med. Genet. 9 (1972) 377-380
2. Augustijn P.B., Parra J., Wouters C.H., Joosten P., Lindhout D., and van Emde Boas W. Ring chromosome 20 epilepsy syndrome in children: electroclinical features. Neurology 57 (2001) 1108-1111
3. Back E., Voiculescu I., Brunger M., and Wolff G. Familial ring (20) chromosomal mosaicism. Hum. Genet. 83 (1989) 148-154
4. Biraben A., Semah F., Ribeiro M.J., Douaud G., Remy P., and Depaulis A. PET evidence for a role of the basal ganglia in patients with ring chromosome 20 epilepsy. Neurology 63 (2004) 73-77
5. Burnell R.H., Stern L.M., and Sutherland G.R. A case of ring 20 chromosome with cardiac and renal anomalies. Aust. Paediatr. J. 21 (1985) 285-286
6. Canevini M.P., Sgro V., Zuffardi O., Canger R., Carrozzo R., Rossi E., Ledbetter D., Minicucci F., Vignoli A., Piazzini A., Guidolin L., Saltarelli A., and dalla Bernardina B. Chromosome 20 ring: a chromosomal disorder associated with a particular electroclinical pattern. Epilepsia 39 (1998) 942-951
7. Chawla J., Sucholeiki R., Jones C., and Silver K. Intractable epilepsy with ring chromosome 20 syndrome treated with vagal nerve stimulation: case report and review of the literature. J. Child Neurol. 17 (2002) 778-780
8. Garcia-Cruz D., Vasquez A.I., Perez-Rulfo D., Davalos N.O., Penaloza J., Garcia-Ortiz J.E., Patino-Garcia B., and Sanchez-Corona J. Ring-20-syndrome and loss of telomeric regions. Ann. Genet. 43 (2000) 113-116
9. Inoue Y., Fujiwara T., Matsuda K., Kubota H., Tanaka M., Yagi K., Yamamori K., and Takahashi Y. Ring chromosome 20 and nonconvulsive status epilepticus. A new epilepticsyndrome. Brain 120 (1997) 939-953
10. Kobayashi K., Inagaki M., Sasaki M., Sugai K., Ohta S., and Hashimoto T. Characteristic EEG findings in ring 20 syndrome as a diagnostic clue. Electroencephalogr. Clin. Neurophysiol. 107 (1998) 258-262
11. Lancman M.E., Penry J.K., Asconape J.J., and Brotherton T.A. Number 20 ring chromosome: a case with complete seizure control. J. Child Neurol. 8 (1993) 186-187
12. Locharernkul C., Ebner A., and Promchainant C. Ring chromosome 20 with nonconvulsive status epilepticus: electroclinical correlation of a rare epileptic syndrome. Clin. EEG Neurosci. 36 (2005) 151-160
13. Macleod S., Mallik A., Tolmie J.L., Stephenson J.B., O'Regan M.E., and Zuberi S.M. Electro-clinical phenotypes of chromosome disorders associated with epilepsy in the absence of dysmorphism. Brain Dev. 27 (2005) 118-124
14. Nishiwaki T., Hirano M., Kumazawa M., and Ueno S. Mosaicism and phenotype in ring chromosome 20 syndrome. Acta Neurol. Scand. 111 (2005) 205-208
15. Schinzel A. Catalogue of Unbalanced Chromosome Aberrations in Man (2001), De Gruyter, Berlin, New York pp. 795-796
16. Thomsen S.G., Petersen M.B., Andersen E.A., Ostergaard G.Z., and Lindenberg S. A case of the ring 20 syndrome. Ann. Genet. 32 (1989) 111-113
17. Ville D., Kaminska A., Bahi-Buisson N., Biraben A., Plouin P., Telvi L., Dulac O., and Chiron C. Early pattern of epilepsy in the ring chromosome 20 syndrome. Epilepsia 47 (2006) 543-549