Different electroclinical picture of generalized epilepsy in two families with 15q13.3 microdeletion

Epilepsia

Volumn 54, Issue 5, 2013, Pages

  Coppola, Antonietta ^a,b   Bagnasco, Irene ^c   Traverso, Monica ^d   Brusco, Alfredo ^e   Di Gregorio, Eleonora ^e   Del Gaudio, Luigi ^a   Santulli, Lia ^a   Caccavale, Carmela ^a   Vigliano, Piernanda ^c   Minetti, Carlo ^d   Striano, Salvatore ^a   Zara, Federico ^d   Striano, Pasquale ^d  

^a UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

^c Martini Hospital   (Italy)

^d G GASLINI INSTITUTE   (Italy)

^e UNIVERSITY OF TURIN   (Italy)

Author keywords

15q13.3 CNV; Absence seizures; Epilepsy; Genetics; Microdeletion

Indexed keywords

ANTICONVULSIVE AGENT; PHENOBARBITAL; VALPROIC ACID;

ADOLESCENT; ADULT; ARTICLE; CASE REPORT; CHILD; CHROMOSOME 15Q; CHROMOSOME DELETION; ELECTROENCEPHALOGRAM; EPILEPTIC STATE; FEMALE; GENERALIZED EPILEPSY; GENETIC GENERALIZED EPILEPSY; HUMAN; IDIOPATHIC GENERALIZED EPILEPSY; INTELLECTUAL IMPAIRMENT; MALE; PHENOTYPE; PRIORITY JOURNAL; SCHOOL CHILD;

ADOLESCENT; ADULT; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 15; ELECTROENCEPHALOGRAPHY; EPILEPSY, GENERALIZED; FAMILY HEALTH; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; INTELLIGENCE; ITALY; MAGNETIC RESONANCE IMAGING; MALE; MUTATION;

EID: 84876906550     PISSN: 00139580     EISSN: 15281167     Source Type: Journal    
DOI: 10.1111/epi.12130     Document Type: Article

References (12)

1. Ben-Shachar S, Lanpher B, German JR, Qasaymeh M, Potocki L, Nagamani SC, Franco LM, Malphrus A, Bottenfield GW, Spence JE, Amato S, Rousseau JA, Moghaddam B, Skinner C, Skinner SA, Bernes S, Armstrong N, Shinawi M, Stankiewicz P, Patel A, Cheung SW, Lupski JR, Beaudet AL, Sahoo T,. (2009) Microdeletion 15q13.3: a locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders. J Med Genet 46: 382-388.
2. Dibbens LM, Mullen S, Helbig I, Mefford HC, Bayly MA, Bellows S, Leu C, Trucks H, Obermeier T, Wittig M, Franke A, Caglayan H, Yapici Z, Sander T, Eichler EE, Scheffer IE, Mulley JC, Berkovic SF,. (2009) Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy: precedent for disorders with complex inheritance. Hum Mol Genet 18: 3626-3631.
3. Heinzen EL, Radtke RA, Urban TJ, Cavalleri GL, Depondt C, Need AC, Walley NM, Nicoletti P, Ge D, Catarino CB, Duncan JS, Kasperaviciute D, Tate SK, Caboclo LO, Sander JW, Clayton L, Linney KN, Shianna KV, Gumbs CE, Smith J, Cronin KD, Maia JM, Doherty CP, Pandolfo M, Leppert D, Middleton LT, Gibson RA, Johnson MR, Matthews PM, Hosford D, Kalviainen R, Eriksson K, Kantanen AM, Dorn T, Hansen J, Kramer G, Steinhoff BJ, Wieser HG, Zumsteg D, Ortega M, Wood NW, Huxley-Jones J, Mikati M, Gallentine WB, Husain AM, Buckley PG, Stallings RL, Podgoreanu MV, Delanty N, Sisodiya SM, Goldstein DB,. (2010) Rare deletions at 16p13.11 predispose to a diverse spectrum of sporadic epilepsy syndromes. Am J Hum Genet 86: 707-718.
4. Helbig I, Mefford HC, Sharp AJ, Guipponi M, Fichera M, Franke A, Muhle H, de Kovel C, Baker C, von Spiczak S, Kron KL, Steinich I, Kleefuss-Lie AA, Leu C, Gaus V, Schmitz B, Klein KM, Reif PS, Rosenow F, Weber Y, Lerche H, Zimprich F, Urak L, Fuchs K, Feucht M, Genton P, Thomas P, Visscher F, de Haan GJ, Moller RS, Hjalgrim H, Luciano D, Wittig M, Nothnagel M, Elger CE, Nurnberg P, Romano C, Malafosse A, Koeleman BP, Lindhout D, Stephani U, Schreiber S, Eichler EE, Sander T,. (2009) 15q13.3 microdeletions increase risk of idiopathic generalized epilepsy. Nat Genet 41: 160-162.
5. Miller DT, Shen Y, Weiss LA, Korn J, Anselm I, Bridgemohan C, Cox GF, Dickinson H, Gentile J, Harris DJ, Hegde V, Hundley R, Khwaja O, Kothare S, Luedke C, Nasir R, Poduri A, Prasad K, Raffalli P, Reinhard A, Smith SE, Sobeih MM, Soul JS, Stoler J, Takeoka M, Tan WH, Thakuria J, Wolff R, Yusupov R, Gusella JF, Daly MJ, Wu BL,. (2009) Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders. J Med Genet 46: 242-248.
6. Muhle H, Mefford HC, Obermeier T, von Spiczak S, Eichler EE, Stephani U, Sander T, Helbig I,. (2011) Absence seizures with intellectual disability as a phenotype of the 15q13.3 microdeletion syndrome. Epilepsia 52: e194-e198.
7. Mulley JC, Mefford HC,. (2011) Epilepsy and the new cytogenetics. Epilepsia 52: 423-432.
8. Mulley JC, Scheffer IE, Desai T, Bayly MA, Grinton BE, Vears DF, Berkovic SF, Dibbens LM,. (2011) Investigation of the 15q13.3 CNV as a genetic modifier for familial epilepsies with variable phenotypes. Epilepsia 52: e139-e142.
9. Scheffer IE, Berkovic SF,. (2010) Copy number variants-an unexpected risk factor for the idiopathic generalized epilepsies. Brain 133: 7-8.
10. Sharp AJ, Mefford HC, Li K, Baker C, Skinner C, Stevenson RE, Schroer RJ, Novara F, De Gregori M, Ciccone R, Broomer A, Casuga I, Wang Y, Xiao C, Barbacioru C, Gimelli G, Bernardina BD, Torniero C, Giorda R, Regan R, Murday V, Mansour S, Fichera M, Castiglia L, Failla P, Ventura M, Jiang Z, Cooper GM, Knight SJ, Romano C, Zuffardi O, Chen C, Schwartz CE, Eichler EE,. (2008) A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures. Nat Genet 40: 322-328.
11. Shinawi M, Schaaf CP, Bhatt SS, Xia Z, Patel A, Cheung SW, Lanpher B, Nagl S, Herding HS, Nevinny-Stickel C, Immken LL, Patel GS, German JR, Beaudet AL, Stankiewicz P,. (2009) A small recurrent deletion within 15q13.3 is associated with a range of neurodevelopmental phenotypes. Nat Genet 41: 1269-1271.
12. Striano P, Coppola A, Paravidino R, Malacarne M, Gimelli S, Robbiano A, Traverso M, Pezzella M, Belcastro V, Bianchi A, Elia M, Falace A, Gazzerro E, Ferlazzo E, Freri E, Galasso R, Gobbi G, Molinatto C, Cavani S, Zuffardi O, Striano S, Ferrero GB, Silengo M, Cavaliere ML, Benelli M, Magi A, Piccione M, Dagna Bricarelli F, Coviello DA, Fichera M, Minetti C, Zara F,. (2012) Clinical significance of rare copy number variations in epilepsy: a case-control survey using microarray-based comparative genomic hybridization. Arch Neurol 69: 322-330.