Document Detail


Occurrence and clinical features of epileptic and non-epileptic paroxysmal events in five children with Pallister-Killian syndrome.
MedLine Citation:
PMID:  22349688     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Pallister-Killian syndrome (PKS) is a rare, sporadic genetic disorder caused by tetrasomy 12p mosaicism associated with a supernumerary isochromosome. Craniofacial dysmorphism, learning impairment and seizures are considered characteristic. However, little is known of the seizure and epilepsy patterns seen in PKS. To better define the occurrence and nature of epileptic and non-epileptic paroxysmal events in PKS, we describe our experience with 5 patients and compare their features with data from a larger cohort of PKS patients ascertained via a web-based parental questionnaire. Three of the 5 patients have had definite epileptic seizures, and one other has had paroxysmal events as yet not clarified. Four of the 5 have also had either non-epileptic paroxysmal events or episodes of uncertain nature. In those with epilepsy, all have had some period of relatively refractory seizures, all have required more than one antiepileptic drug, but none experienced status epilepticus. Only one of the patients with epilepsy (the oldest) has gone into remission. In two of the four with non-epileptic events, video-electroencephalographic monitoring has been valuable in clarifying the nature of the events. EEG characteristics include a slow dominant frequency as well as generalized and focal epileptiform features. Brain MRI findings can be normal but are variable. These specific findings correspond well to information reported by parents in a larger cohort of 51 individuals with PKS. Better understanding of the nature of epileptic and non-epileptic events in PKS will result from a more detailed analysis of objective data obtained from this larger cohort, and from deeper understanding of the molecular impact of 12p tetrasomy in selected cell lines.
Authors:
Francis M Filloux; John C Carey; Ian D Krantz; Jeffrey J Ekstrand; Meghan S Candee
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Publication Detail:
Type:  Journal Article     Date:  2012-02-01
Journal Detail:
Title:  European journal of medical genetics     Volume:  55     ISSN:  1878-0849     ISO Abbreviation:  Eur J Med Genet     Publication Date:  2012 May 
Date Detail:
Created Date:  2012-06-12     Completed Date:  2012-10-17     Revised Date:  2013-12-08    
Medline Journal Info:
Nlm Unique ID:  101247089     Medline TA:  Eur J Med Genet     Country:  Netherlands    
Other Details:
Languages:  eng     Pagination:  367-73     Citation Subset:  IM    
Copyright Information:
Copyright © 2012 Elsevier Masson SAS. All rights reserved.
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MeSH Terms
Descriptor/Qualifier:
Abnormalities, Multiple / diagnosis,  physiopathology*
Adolescent
Adult
Brain Waves
Child
Child, Preschool
Chromosome Disorders / diagnosis,  physiopathology*
Chromosomes, Human, Pair 12
Epilepsy / diagnosis,  physiopathology*
Female
Humans
Male
Grant Support
ID/Acronym/Agency:
P01 HD052860/HD/NICHD NIH HHS
Comments/Corrections

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