Epilepsy in ring 14 syndrome: A clinical and EEG study of 22 patients

Epilepsia

Volumn 54, Issue 12, 2013, Pages 2204-2213

  Giovannini, Simona ^a   Marangio, Lucia ^b   Fusco, Carlo ^c   Scarano, Angela ^c   Frattini, Daniele ^c   Della Giustina, Elvio ^c   Zollino, Marcella ^d   Neri, Giovanni ^d   Gobbi, Giuseppe ^a  

^a BELLARIA HOSPITAL   (Italy)

^b UNIVERSITY OF FERRARA   (Italy)

^c S MARIA NUOVA HOSPITAL   (Italy)

^d CATHOLIC UNIVERSITY   (Italy)

Author keywords

Childhood epilepsy; Electroclinical phenotype; Epileptic evolution; Ring 14 syndrome

Indexed keywords

CARBAMAZEPINE; ETHOSUXIMIDE; FELBAMATE; FOLINIC ACID; MIDAZOLAM; PHENOBARBITAL; PYRIDOXINE;

ADOLESCENT; ADULT; ARTICLE; BENIGN CHILDHOOD EPILEPSY; CHILD; CHROMOSOME 14; CLINICAL ARTICLE; COGNITIVE DEVELOPMENT; DISEASE CONTROL; DRUG RESPONSE; DRUG WITHDRAWAL; EEG ABNORMALITY; EPILEPTIC STATE; FEMALE; FOCAL EPILEPSY; FOLLOW UP; GENERALIZED EPILEPSY; HUMAN; MALE; ONSET AGE; PHENOTYPIC VARIATION; PRESCHOOL CHILD; PRIORITY JOURNAL; RING 14 SYNDROME; RING CHROMOSOME; SCHOOL CHILD; SEIZURE; SPIKE WAVE; SYMPTOM ASSESSMENT; TONIC CLONIC SEIZURE;

EID: 84890120649     PISSN: 00139580     EISSN: 15281167     Source Type: Journal    
DOI: 10.1111/epi.12393     Document Type: Article

References (31)

1. Bahi-Buisson N, Gutierrez-Delicado E, Soufflet C, Rio M, Cormier Daire V, Lacombe D, Héron D, Verloes A, Zuberi SM, Burglen L, Afenjar A, Moutard LM, Edery P, Dulac O, Nabbout R, Plouin P, Battaglia A,. (2008) Spectrum of epilepsy in terminal 1p36 deletion syndrome. Epilepsia 49: 509-515.
2. Battaglia A, Filippi T, South ST, Carey JC,. (2009) Spectrum of epilepsy and EEG patterns in Wolf-Hirschhorn syndrome: experience with 87 patients. Dev Med Child Neurol 51: 373-380.
3. Baur JA, Zou Y, Shay JW, Wright WE,. (2001) Telomere position effect in human cells. Science 292: 2075-2077.
4. Berg AT, Berkovic SF, Brodie MJ, Buchhalter J, Cross JH, van Emde Boas W, Engel J, French J, Glauser TA, Mathern GW, Moshé SL, Nordli D, Plouin P, Scheffer IE,. (2010) Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005-2009. Epilepsia 51: 676-685.
5. Biraben A, Semah F, Ribeiro MJ, Douaud G, Remy P, Depaulis A,. (2004) PET evidence for a role of the basal ganglia in patients with ring chromosome 20 epilepsy. Neurology 63: 73-77.
6. Bowser-Riley S, Buckton KE, Ratcliffe SG, Syme J,. (1981) Inheritance of a ring 14 chrsomosome. J Med Genet 18: 209-213.
7. Dibbens LM, Tarpey PS, Hynes K, Bayly MA, Scheffer IE, Smith R, Bomar J, Sutton E, Vandeleur L, Shoubridge C, Edkins S, Turner SJ, Stevens C, O'Meara S, Tofts C, Barthorpe S, Buck G, Cole J, Halliday K, Jones D, Lee R, Madison M, Mironenko T, Varian J, West S, Widaa S, Wray P, Teague J, Dicks E, Butler A, Menzies A, Jenkinson A, Shepherd R, Gusella JF, Afawi Z, Mazarib A, Neufeld MY, Kivity S, Lev D, Lerman-Sagie T, Korczyn AD, Derry CP, Sutherland GR, Friend K, Shaw M, Corbett M, Kim HG, Geschwind DH, Thomas P, Haan E, Ryan S, McKee S, Berkovic SF, Futreal PA, Stratton MR, Mulley JC, Gécz J,. (2008) X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment. Nat Genet 40: 776-781.
8. Engel J Jr,. (2001) Classification of epileptic disorders. Epilepsia 42: 316.
9. Gilgenkrantz S, Cabrol C, Lausecker C, Hartley ME, Bohe B,. (1971) The Dr syndrome. Study of a further case (46, XX,14r). Ann Genet 14: 23-31.
10. Gilgenkrantz S, Morali A, Vidailhet M, Saura R, Serville F, Fontan D, Moraine C,. (1984) The r(14) syndrome. 3 new observations. Ann Genet 27: 73-78.
11. Giovannini S, Frattini D, Scarano A, Fusco C, Bertani G, Della Giustina E, Martinelli P, Orteschi D, Zollino M, Neri G, Gobbi G,. (2010) Partial epilepsy complicated by convulsive and nonconvulsive episodes of status epilepticus in a patient with ring chromosome 14 syndrome. Epileptic Disord 12: 222-227.
12. Grewal SI, Moazed D,. (2003) Heterochromatin and epigenetic control of gene expression. Science 301: 798-802.
13. Guerrini R, De Lorey TM, Bonanni P, Moncla A, Dravet C, Suisse G, Livet MO, Bureau M, Malzac P, Genton P, Thomas P, Sartucci F, Simi P, Serratosa JM,. (1996) Cortical myoclonus in Angelman syndrome. Ann Neurol 40: 39-48.
14. Hanashima C, Li SC, Shen L, Lai E, Fishell G,. (2004) Foxg1 suppresses early cortical cell fate. Science 303: 56-59.
15. Inoue Y, Fujiwara T, Matsuda K, Kubota H, Tanaka M, Yagi K, Yamamori K, Takahashi Y,. (1997) Ring chromosome 20 and non convulsive status epilepticus: a new epileptic syndrome. Brain 120: 939-953.
16. Kleinjan DJ, van Heyningen V,. (1998) Position effect in human genetic disease. Hum Mol Genet 7: 1611-1618.
17. Kobayashi K, Inagaki M, Sasaki M, Sugai K, Ohta S, Hashimoto T,. (1998) Characteristic EEG findings in ring 20 syndrome as a diagnostic clue. Electroencephalogr Clin Neurophysiol 107: 258-262.
18. Laan LA, Renier WO, Arts WF, Buntinx IM, vd Burgt IJ, Stroink H, Beuten J, Zwinderman KH, van Dijk JG, Brouwer OF,. (1997) Evolution of epilepsy and EEG findings in Angelman syndrome. Epilepsia 38: 195-199.
19. Lloyd VK, Dyment D, Sinclair DA, Grigliatti TA,. (2003) Different patterns of gene silencing in position-effect variegation. Genome 46: 1104-1117.
20. Maurin ML, Brisset S, Le Lorc'h M, Poncet V, Trioche P, Aboura A, Labrune P, Tachdjian G,. (2006) Terminal 14q32.33 deletion: genotype-phenotype correlation. Am J Med Genet A 140: 2324-2329.
21. Morimoto M, Usuku T, Tanaka M, Otabe O, Nishimura A, Ochi M, Takeuchi Y, Yoshioka H, Sugimoto T,. (2003) Ring chromosome 14 with localization-related epilepsy: three cases. Epilepsia 44: 1245-1249.
22. Schlade-Bartusiak K, Costa T, Summers AM, Nowaczyk MJ, Cox DW,. (2005) FISH-Mapping of telomeric 14q32 deletions: search for cause of seizures. Am J Med Genet A 138A: 218-224.
23. Specchio N, Trivisano M, Serino D, Cappelletti S, Carotenuto A, Claps D, Marras CE, Fusco L, Elia M, Vigevano F,. (2012) Epilepsy in ring 14 chromosome syndrome. Epilepsy Behav 25: 585-592.
24. Uemura N, Matsumoto A, Nakamura Watanabe K, Negoro T, Kumagai T, Miura K, Ohki T, Mizuno S, Okumura A, Aso K, Hayakawa F, Kondo Y,. (2005) Evolution of seizures and electroencephalographical findings in 23 cases of deletion type Angelman syndrome. Brain Dev 27: 383-388.
25. Valente KD, Freitas A, Fiore LA, Kim CA,. (2003) A study of EEG and epilepsy profile in Wolf-Hirschhorn syndrome and considerations regarding its correlation with other chromosomal disorders. Brain Dev 25: 283-287.
26. Van Karnebeek CDM, Quik S, Sluijter S, Hulsbeek MM, Hoovers JM, Hennekam RC,. (2002) Further delineation of the chromosome 14q deletion syndrome. Am J Hum Genet 110: 65-72.
27. Ville D, De Bellescize J, Nguyen MA, Testard H, Gautier A, Perrier J, Till M, DES Portes V,. (2009) Ring 14 chromosome presenting as early onset isolated partial epilepsy. Dev Med Child Neurol 51: 917-922.
28. Wintle RF, Costa T, Haslam RH, Teshima IE, Cox DW,. (1995) Molecular analysis redifines three human chromosome 14 deletions. Hum Genet 95: 495-500.
29. Zelante L, Torricelli F, Calvano S, Mingarelli R, Dallapiccola B,. (1991) Ring chromosome 14 syndrome: report of two cases, including extended evaluation of a previously reported patient and review. Ann Genet 34: 93-97.
30. Zollino M, Seminara L, Orteschi D, Gobbi G, Giovannini S, Della Giustina E, Frattini D, Scarano A, Neri G,. (2009) The ring 14 syndrome: clinical and molecular definition. Am J Med Genet A 149A: 1116-1124.
31. Zollino M, Ponzi E, Gobbi G, Neri G,. (2012) The ring 14 syndrome. Eur J Med Genet 55: 374-380.