Occurrence and clinical features of epileptic and non-epileptic paroxysmal events in five children with Pallister-Killian syndrome

European Journal of Medical Genetics

Volumn 55, Issue 5, 2012, Pages 367-373

  Filloux, Francis M ^a   Carey, John C ^a   Krantz, Ian D ^b   Ekstrand, Jeffrey J ^a   Candee, Meghan S ^a  

^a UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

^b CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

Author keywords

12p tetrasomy; Epilepsy; Isochromosome 12p; Mosaicism; Non epileptic paroxysmal events; Pallister Killian syndrome; Seizure semiology

Indexed keywords

CARBAMAZEPINE; CLONAZEPAM; ETIRACETAM; LAMOTRIGINE; OXCARBAZEPINE; PHENOBARBITAL; TOPIRAMATE; ZONISAMIDE;

12P TETRASOMY; ADOLESCENT; ARTICLE; BRAIN DISEASE; CHILD; CHROMOSOME MOSAICISM; CLINICAL ARTICLE; CLINICAL FEATURE; COGNITIVE DEFECT; COMPLEX PARTIAL SEIZURE; CONTROLLED STUDY; DYSCONJUGATE GAZE; ELECTROENCEPHALOGRAPHY; EPILEPSY; EPILEPTIC DISCHARGE; EYE MOVEMENT DISORDER; FACE DYSMORPHIA; FEMALE; GENERALIZED EPILEPSY; GENERALIZED TONIC CLONIC SEIZURE; GENERALIZED TONIC SEIZURE; HEARING LOSS; HUMAN; INCIDENCE; INTELLECTUAL IMPAIRMENT; MALE; MOSAICISM; MUSCLE HYPOTONIA; MYOCLONUS SEIZURE; NEUROIMAGING; NEUROLOGIC EXAMINATION; NON EPILEPTIC PAROXYSMAL EVENT; NUCLEAR MAGNETIC RESONANCE IMAGING; NUMERICAL CHROMOSOME ABERRATION; PALLISTER KILLIAN SYNDROME; REMISSION; SEIZURE; SLEEP DISORDER; VISUAL IMPAIRMENT;

ABNORMALITIES, MULTIPLE; ADOLESCENT; ADULT; BRAIN WAVES; CHILD; CHILD, PRESCHOOL; CHROMOSOME DISORDERS; CHROMOSOMES, HUMAN, PAIR 12; EPILEPSY; FEMALE; HUMANS; MALE;

EID: 84862179152     PISSN: 17697212     EISSN: 18780849     Source Type: Journal    
DOI: 10.1016/j.ejmg.2012.01.006     Document Type: Article

References (34)

1. Pallister, Meisner, et al. The Pallister mosaic syndrome. Birth Defects Orig. Artic. Ser. 1977.
2. Killian W., Teschler-Nicola Case report 72: mental retardation, unusual facial appearance, abnormal hair. Synd. Ident. 1981, 7:6-7.
3. Reynolds J.F., Daniel A., Kelly T.E., Gollin S.M., Stephan M.J., Carey J., Adkins W.N., Webb M.J., Char F., Jimenez J.F., Opitz J.M. Isochromosome 12p mosaicism (Pallister mosaic aneuploidy or Pallister-Killian syndrome): report of 11 cases. Am. J. Med. Genet. 1987, 27:257-274.
4. Bielanska M.M., Khalifa M.M., Duncan M.V. Pallister-Killian syndrome: a Mild case diagnosed by fluorescene in situ hybridization. Review of the literature and expansion of the phenotype. Am. J. Med. Genet. 1996, 65:104-108.
5. Speleman F., Leroy J.G., Van Roy N., De Paepe A., Suijkerbuijk R., Brunner H., Looijenga L., Verschraegen-Spae M.R., Orye E. Pallister-Killian syndrome: characterization of the isochromosome 12p by fluorescent in situ hybridization. Am. J. Med. Genet. 1991, 41:381-387.
6. Smigiel R., Pilch J., Makowsa I., Buska H., Slezak R., Sasiadek M.M. The Pallister-Killian syndrome in a child with rare karyotype-a diagnostic problem. Eur. J. Pediatr. 2008, 167:1063-1065.
7. Conant K.D., Thibert R.L., Thiele E.A. Epilepsy and the sleep-wake patterns found in Angelman syndrome. Epilepsia 2009, 50:2497-2500.
8. Korff C.M., Kelley K.R., Nordli D.R. Notched delta, phenotype and Angelman syndrome. J. Clin. Neurophysiol. 2005, 22:238-243.
9. Laan L.A., Brouwer O.F., Begeer C.H., Zwinderman A.H., van Dijk J.G. The diagnostic value of the EEG in Angelman and Rett syndrome at a young age. Electroencephalogr. Clin. Neurophysiol. 1998, 106:404-408.
10. Minassian B.A., DeLorey T.M., Olsen R.W., Philippart M., Bronstein Y., Zhang Q., Guerrini R., Van Ness P., Livet M.O., Delgado-Escueta A.V. Angelman syndrome: correlations between epilepsy phenotypes and genotypes. Ann. Neurol. 1998, 43:485-493.
11. Battaglia A., Filippia T., South S.T., Carey J.C. Spectrum of epilepsy and electroencephalogram patterns in Wolf-Hirschhorn syndrome: experience with 87 patients. Dev. Med. Child. Neurol. 2009, 51:373-380.
12. Worthington J.C., Rigby A.S., Quarrell O.W. Seizure frequency in adults with Wolf-Hirschhorn syndrome. Am. J. Med. Genet. Part A 2008, 146:2528-2531.
13. Buoni S., Zannolli R., Felice C.D., Saponari S., Strambi M., Dotti M.T., Castrucci E., Corbini L., Orsi A., Hayek J. Drug-resistant epilepsy and epileptic phenotype-EEG association in MECP2 mutated Rett syndrome. Clin. Neurophysiol. 2008, 119:2455-2458.
14. Ohtsuka Y., Oka E., Terasaki T., Ohtahara S. Aicardi syndrome: a longitudinal clinical and electroencephalographic study. Epilepsia 1993, 34:627-634.
15. Cerminara C., Compagnone E., Bagnolo V., Galasso C., Lo-Castro A., Brinciotti M., Curatolo P. Late-onset epileptic spasms in children with Pallister-Killian syndrome: a report of two new cases and review of the electroclinical aspects. J. Child. Neurol. 2010, 25:238-245.
16. Sanchez-Carpintero R., McLellan A., Parmeggiani L., Cockwell A.E., Ellis R.J., Cross J.H., Eckhardt S., Guerrini R. Pallister-Killian syndrome: an unusual cause of epileptic spasms. Dev. Med. Child. Neurol. 2005, 47:776-779.
17. Yamamoto H., Fukuda M., Murakami H., Kamiyama N., Miyamoto Y. A case of Pallister-Killian syndrome associated with West syndrome. Pediatr. Neurol. 2007, 37:226-228.
18. Gerstner T., Bell N., Koenig S.A. Valproate-associated reversible encephalopathy in a 3-year-old girl with Pallister-Killian syndrome. Ther. Clin. Risk Manag. 2008, 4:645-647.
19. M. Candee, J.C. Carey, I. Krantz, F. Filloux, Seizure characteristics in Pallister-Killian syndrome, manuscript submitted for publication.
20. Horneff G., Majewski F., Hildebrand B., Voit T., Lenard H.G. Pallister-Killian syndrome in older children and adolescents. Pediatr. Neurol. 1993, 9:312-315.
21. Stalker H.J., Gray B.A., Bent-Williams A., Zori R.T. High cognitive functioning and behavioral phenotype in Pallister-Killian syndrome. Am. J. Med. Genet. 2006, 140:1950-1954.
22. Freeman R.D., Soltanifar A., Baer S. Stereotypic movement disorder: easily missed. Dev. Med. Child. Neurol. 2010, 52:733-738.
23. Kim H.L., Donnelly J.H., Tournay A.E., Book T.M., Filipek P. Absence of seizures despite high prevalence of epileptiform EEG abnormalities in children with autism monitored in a tertiary care center. Epilepsia 2006, 47:394-398.
24. Parmeggiani A., Barcia G., Posar A., Raimondi E., Santucci M., Scaduto M.C. Epilepsy and EEG paroxysmal abnormalities in autism spectrum disorders. Brain Dev. 2010, 32:783-789.
25. Glaze D.G., Schultz R.J., Frost J.D. Rett syndrome: characterization of seizures versus non-seizures. Electroencephalogr. Clin. Neurophysiol. 1998, 106:79-83.
26. Cardoza G., Clarke A., Wilcox J., Gibbon F., Smith P.E., Archer H., Hryniewiecka-Jaworska A., Kerr M. Epilepsy in Rett syndrome: association between phenotype and genotype, and implications for practice. Seizure 2011, 20:646-649.
27. Scherer S.E., Muzny D.M., Buhay C.J., et al. The finished DNA sequence of human chromosome 12. Nature 2006, 440:346-351. Baylor College of Medicine Human Genome Sequencing Center Sequence Production Team.
28. Nicita F., De Liso P., Danti F.R., Papetti L., Ursitti F., Castronovo A., Allemand F., Gennaro E., Zara F., Striano P., Spalice A. The genetics of monogenic idiopathic epilepsies and epileptic encephalopathies. Seizure Sep 12 2011, [Epub ahead of print].
29. Weimer R.M., Richmond J.E., Davis W.S., Hadwiger G., Nonet M.L., Jorgensen E.M. Defects in synaptic vesicle docking in unc-18 mutants. Nat. Neurosci. 2003, 6:1023-1030.
30. Molinari F., Kaminska A., Fiermonte G., Boddaert N., Raas-Rothschild A., Plouin P., Palmieri L., Brunelle F., Palmieri F., Dulac O., Munnich A., Colleaux L. Mutations in the mitochondrial glutamate carrier SLC25A22 in neonatal epileptic encephalopathy with suppression bursts. Clin. Genet. 2009, 76:188-194.
31. Sherr E.H. The ARX story (epilepsy, mental retardation, autism, and cerebral malformations): one gene leads to many phenotypes. Curr. Opin. Pediatr. 2003, 15:567-571.
32. Morar B., Zhelyazkova S., Azmanov D.N., Radionova M., Angelicheva D., Guergueltcheva V., Kaneva R., Scheffer I.E., Tournev I., Kalaydjieva L., Sander J.W. A novel GEFS+ locus on 12p13.33 in a large Roma family. Epilepsy Res. Sep 12 2011, [Epub ahead of print].
33. Griffith C.B., Vance G.H., Weaver D.D. Phenotypic variability in trisomy 13 mosaicism: two new patients and literature review. Am. J. Med. Genet. A 2009, 149:1346-1358.
34. Tucker M.E., Garringer H.J., Weaver D.D. Phenotypic spectrum of mosaic trisomy 18: two new patients, a literature review, and counseling issues. Am. J. Med. Genet. A 2007, 143:505-517.