Generalized epilepsy in two patients with 5p duplication

Neuropediatrics

Volumn 44, Issue 4, 2013, Pages 225-229

  Kluger, Gerhard ^a,b   Koehler, Udo ^c   Neuhann, Teresam ^c   Pieper, Tom ^a   Staudt, Martin ^a,d   Von Stülpnagel, Celina ^a  

^a Hospital for Neuropaediatrics and Neurological Rehabilitation   (Germany)

^b PARACELSUS MEDICAL UNIVERSITY   (Austria)

^c MGZ Center of Medical Genetics   (Germany)

^d UNIVERSITY HOSPITAL TÜBINGEN   (Germany)

Author keywords

5p microduplication; array CGH; nonlesional epilepsy; seizures

Indexed keywords

CARBAMAZEPINE; CLOBAZAM; ETIRACETAM; LAMOTRIGINE; PHENOBARBITAL; PRIMIDONE; STEROID; SULTIAME; TOPIRAMATE; VALPROIC ACID; VIGABATRIN; ZONISAMIDE;

ABSENCE; ADENOID; ADOLESCENT; ADULT; ARACHNODACTYLY; ARTICLE; CASE REPORT; CHROMOSOME 5P; CHROMOSOME ANALYSIS; CHROMOSOME ARM; CHROMOSOME DUPLICATION; CHROMOSOME SIZE; CLUBFOOT; COMPARATIVE GENOMIC HYBRIDIZATION; COPY NUMBER VARIATION; DEVELOPMENTAL DISORDER; DYSPNEA; EAR MALFORMATION; ELECTROENCEPHALOGRAM; FEBRILE CONVULSION; FEMALE; GENERALIZED EPILEPSY; HUMAN; INGUINAL HERNIA; INTRAUTERINE GROWTH RETARDATION; MALE; MUSCLE HYPOTONIA; MYOCLONIC ASTATIC EPILEPSY; MYOCLONUS; NEUROLOGIC DISEASE; NUCLEAR MAGNETIC RESONANCE; PATHOGENICITY; PHENOTYPE; PHOTOSENSITIVE EPILEPSY; PHOTOSENSITIVITY; PRIORITY JOURNAL; PSYCHOMOTOR DEVELOPMENT; SEIZURE; SEX CHROMOSOMAL INHERITANCE; SLEEP DISORDERED BREATHING; SPIKE WAVE; SYMPTOMATIC EPILEPSY; THORAX MALFORMATION; TONIC CLONIC SEIZURE;

ADOLESCENT; CHROMOSOME ABERRATIONS; CHROMOSOMES, HUMAN, PAIR 5; DEVELOPMENTAL DISABILITIES; EPILEPSY, GENERALIZED; GENE DUPLICATION; HUMANS; MALE;

EID: 84880328450     PISSN: 0174304X     EISSN: 14391899     Source Type: Journal    
DOI: 10.1055/s-0033-1333872     Document Type: Article

References (14)

1. Lejeune J., Lafourcade R., Berger R. T. Ségrégation familiale d'une translocation 5-13 déterminant une monosomie et une trisomie partielles du bras court du chromosome 5: maladie du cri du chat et sa réciproque CR Acad Sci: 1964; 258 5767 5770
2. Zabel B., Baumann W., Gehler J., Conrad G. Partial trisomy for short and long arm of chromosome no. 5: Two cases of two possible syndromes. J Med Genet: 1978; 15 2 143 147 (Pubitemid 8338048)
3. Grosso S., Cioni M., Garibaldi G., et al. De novo complete trisomy 5p: clinical and neuroradiological findings. Am J Med Genet: 2002; 112 1 56 60
4. Loscalzo M. L., Becker T. A., Sutcliffe M. A patient with an interstitial duplication of chromosome 5p11-p13.3 further confirming a critical region for 5p duplication syndrome. Eur J Med Genet: 2008; 51 1 54 60 (Pubitemid 351163182)
5. Yan J., Zhang F., Brundage E., et al. Genomic duplication resulting in increased copy number of genes encoding the sister chromatid cohesion complex conveys clinical consequences distinct from Cornelia de Lange. J Med Genet: 2009; 46 9 626 634
6. Oexle K., Hempel M., Jauch A., et al. 3.7 Mb tandem microduplication in chromosome 5p13.1-p13.2 associated with developmental delay, macrocephaly, obesity, and lymphedema. Further characterization of the dup(5p13) syndrome. Eur J Med Genet: 2011; 54 3 225 230
7. Krantz I. D., McCallum J., DeScipio C., et al. Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B. Nat Genet: 2004; 36 6 631 635 (Pubitemid 38715992)
8. Mefford H. C., Muhle H., Ostertag P., et al. Genome-wide copy number variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsies. PLoS Genet: 2010; 6 5 e1000962
9. Liu G., Beggs H., Jürgensen C., et al. Netrin requires focal adhesion kinase and Src family kinases for axon outgrowth and attraction. Nat Neurosci: 2004; 7 11 1222 1232 (Pubitemid 39426242)
10. Cain D. P., Grant S. G., Saucier D., Hargreaves E. L., Kandel E. R. Fyn tyrosine kinase is required for normal amygdala kindling. Epilepsy Res: 1995; 22 2 107 114
11. Weiss L. A., Shen Y., Korn J. M., et al. Autism Consortium Association between microdeletion and microduplication at 16p11.2 and autism. N Engl J Med: 2008; 358 7 667 675 (Pubitemid 351240746)
12. D'Amato Sizonenko L., Ng D., Oei P., Winship I. Supernumerary marker chromosomes 5: confirmation of a critical region and resultant phenotype. Am J Med Genet: 2002; 111 1 19 26 (Pubitemid 34761574)
13. Lorda-Sánchez I., Urioste M., Villa A., et al. Proximal partial 5p trisomy resulting from a maternal (19;5) insertion. Am J Med Genet: 1997; 68 4 476 480 (Pubitemid 27073720)
14. Avansino J. R., Dennis T. R., Spallone P., Stock A. D., Levin M. L. Proximal 5p trisomy resulting from a marker chromosome implicates band 5p13 in 5p trisomy syndrome. Am J Med Genet: 1999; 87 1 6 11 (Pubitemid 29522054)