Seizure characteristics in Pallister–Killian syndrome

Candee, Meghan; Carey, John C.; Krantz, Ian D.; Filloux, Francis

doi:10.1002/ajmg.a.35567

Cited by 20 publications

(29 citation statements)

References 31 publications

(54 reference statements)

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“…Myoclonic seizures were more common and affected 60.0% of those with epilepsy, which correlates with Candee et al 's data 37. In the presence of other suggestive features, myoclonic seizures may help towards the diagnosis of Pallister-Killian syndrome.…”

Section: Discussionsupporting

confidence: 80%

“…Epilepsy was present in 72.7% of this cohort, compared with 53% reported by Candee et al 37. The difference is likely to reflect the population, as the mean and median ages of their cohort are younger than that seen in this study.…”

Section: Discussioncontrasting

confidence: 68%

“…No group report24 36 37 42–44 mentions the presence of hexasomic cell lines and these have only been recorded in 31 – 3 of 117 individually reported cases (2.6%). This may partly be explained by laboratories not actively seeking further low-level mosaicism once Pallister-Killian syndrome has been diagnosed.…”

Section: Discussionmentioning

confidence: 99%

“…Although the recent report from Wilkens et al 36 covers 59 affected individuals, each section covers only part of their cohort. Data on development and seizures is published in companion papers24 37 including 16 and 51 patients from their cohort, respectively. This study is the first to provide comprehensive data on a population based sample.…”

Section: Introductionmentioning

confidence: 99%

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Pallister-Killian syndrome: a study of 22 British patients

et al. 2015

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Twenty-two patients with Pallister-Killian syndrome, ranging from 4 months to 31 years were recruited and comprehensive data on each obtained. The birth incidence was 5.1 per million live births. Array CGH only suggested the diagnosis in 15.8% but buccal FISH could have made the diagnosis in 75.0%. There was no genotype-phenotype correlation in any of the tissues studied. This study shows that the high birth weights and profound intellectual disability classically described in Pallister-Killian syndrome are not universal. Mild or moderate intellectual disability was present in 27.6% of this cohort and all birth weights were within 2.67SD of the mean. New features which have not previously been recognised as part of Pallister-Killian syndrome include anhydrosis/hypohydrosis and episodic hyperventilation, suggesting involvement of the autonomic system.

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Section: Discussionsupporting

confidence: 80%

Section: Discussioncontrasting

confidence: 68%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Pallister-Killian syndrome: a study of 22 British patients

et al. 2015

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“…Recently, we have added to this existing information by describing the seizure and epilepsy characteristics of a large cohort of PKS patients acquired via a web-based questionnaire in collaboration with the PKS Kids family-based support organization [19]. The self-reported clinical information has been recently summarized, and useful information regarding seizure type, medication management and prognosis so described.…”

Section: Introductionmentioning

confidence: 99%

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

Filloux

Carey

Krantz

et al. 2012

European Journal of Medical Genetics

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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.

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