Epilepsy and Other Neuropsychiatric Manifestations in Children and Adolescents with 22q11.2 Deletion Syndrome

Kim, Eun Hee; Yum, Mi‐Sun; Lee, Beom Hee; Kim, Hyo Won; Lee, Hyun Jeoung; Kim, Gu Hwan; Lee, Yun Jeong; Ko, Tae Sung

doi:10.3988/jcn.2016.12.1.85

Cited by 24 publications

(48 citation statements)

References 31 publications

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“…This observation is supported by a second, not PubMed-listed report on a similar single case [Bernhard et al, 2007]. Seven out of 12 reports revealed 22 22q11DS patients with GGE [El Tahir et al, 2004;Kao et al, 2004;Lemke et al, 2009;de Kovel et al, 2010;Kim et al, 2016]. Among these, 6 individuals were described with generalized epilepsy and myoclonic seizures [El Tahir et al, 2004;Kao et al, 2004], and 2 further individuals were diagnosed with JME [El Tahir et al, 2004;Lemke et al, 2009;Kim et al, 2016].…”

Section: Cohort Of 173 22q11ds Patientssupporting

confidence: 66%

“…Seven out of 12 reports revealed 22 22q11DS patients with GGE [El Tahir et al, 2004;Kao et al, 2004;Lemke et al, 2009;de Kovel et al, 2010;Kim et al, 2016]. Among these, 6 individuals were described with generalized epilepsy and myoclonic seizures [El Tahir et al, 2004;Kao et al, 2004], and 2 further individuals were diagnosed with JME [El Tahir et al, 2004;Lemke et al, 2009;Kim et al, 2016]. The remaining 11 patients had generalized epilepsy not described in further detail.…”

Section: Cohort Of 173 22q11ds Patientsmentioning

confidence: 99%

“…The remaining 11 patients had generalized epilepsy not described in further detail. Finally, 4 out of 12 reports describe the occurrence of myoclonic jerks in association with undefined epilepsy [Sachdev, 2002;O'Hanlon et al, 2003;Kim et al, 2016] or without epilepsy [Baralle et al, 2002].…”

Section: Cohort Of 173 22q11ds Patientsmentioning

confidence: 99%

“…In addition to the rare known monogenic forms, GGE has repeatedly been associated with various copy number variants (CNVs), such as deletions of 15q11.2, 15q13.3, and 16p13.11 [Helbig et al, 2009;de Kovel et al, 2010]. Other CNVs appear to be rare; however, de Kovel et al [2010], Lal et al [2015], and Kim et al [2016] described 8 GGE individuals carrying a microdeletion of 22q11.2. Lal et al [2015] also recognized that 3/1,366 GGE cases had the deletion but not one of 5,234 controls did (p value = 8.85E -3 ).…”

mentioning

confidence: 99%

“…Epilepsy with a structural aetiology was diagnosed in 10 patients (45.5%). In 12 patients, epilepsy was stated to be genetic (54.5%) [Kim et al, 2016].…”

mentioning

confidence: 99%

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Generalized Epilepsy and Myoclonic Seizures in 22q11.2 Deletion Syndrome

Strehlow

Thomas

et al. 2016

Mol Syndromol

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Prompted by the observations of juvenile myoclonic epilepsy (JME) in 22q11.2 deletion syndrome (22q11DS) and recurrent copy number variants in genetic generalized epilepsy (GGE), we searched for further evidence supporting a possible correlation of 22q11DS with GGE and with myoclonic seizures. Through routine diagnostics, we identified 3 novel individuals with the seemingly uncommon combination of 22q11DS and JME. We subsequently screened the literature for reports focussing on the epilepsy phenotype in 22q11DS. We additionally screened a database of 173 22q11DS patients and identified a fourth individual with JME as well as 2 additional cases with GGE. We describe 6 novel and 22 published cases with co-occurrence of 22q11DS and GGE. In many patients, GGE was associated with myoclonic seizures allowing for a diagnosis of JME in at least 6 individuals. Seventeen of the 173 22q11DS cases (10%) had a diagnosis of either focal or generalized epilepsy. In these cases, focal epilepsy could often be attributed to syndrome-associated hypocalcaemia, cerebral bleeds, or structural brain anomalies. However, the cause of GGE remained unclear. In this study, we describe and review 28 individuals with 22q11DS and GGE (especially JME), showing that both disorders frequently co-occur. Compared to the reported prevalence of 15-21%, in our case series only 10% of 22q11DS individuals were found to have epilepsy, often GGE. Since 22q11.2 does not contain convincing GGE candidate genes, we discuss the possibility of an aetiological correlation through a possibly disturbed interaction with the GABA_B receptor.

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Section: Cohort Of 173 22q11ds Patientssupporting

confidence: 66%

Section: Cohort Of 173 22q11ds Patientsmentioning

confidence: 99%

Section: Cohort Of 173 22q11ds Patientsmentioning

confidence: 99%

mentioning

confidence: 99%

“…Epilepsy with a structural aetiology was diagnosed in 10 patients (45.5%). In 12 patients, epilepsy was stated to be genetic (54.5%) [Kim et al, 2016].…”

mentioning

confidence: 99%

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Generalized Epilepsy and Myoclonic Seizures in 22q11.2 Deletion Syndrome

Strehlow

Thomas

et al. 2016

Mol Syndromol

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Periventricular nodular heterotopia in 22q11.2 deletion and frontal lobe migration

Rezazadeh

Bercovici

Kiehl

et al. 2018

Ann Clin Transl Neurol

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ObjectiveWe aimed to delineate the distribution of periventricular nodular heterotopia (PNH) in patients with 22q11.2 microdeletion syndrome (22q11.2DS) and place this in the context of other genetic forms of PNH.MethodsWe retrospectively analyzed brain imaging and postmortem data available for adult patients with 22q11.2DS. We included only those with good quality MRI data (n = 29) in addition to two patients with PNH identified through postmortem studies. We also reviewed the pattern of PNH in all genetic conditions reported with this phenotype.ResultsOf the total seven patients (M = 4, F = 3; age: 19–61 years) identified to have PNH, six had a history of seizures, six had schizophrenia, six had variable levels of intellectual disability, and two had obsessive compulsive disorder. In all seven patients, the nodules were located over the dorsal pole of the frontal horn of the lateral ventricles. The nodules were small, noncontiguous, and ranged in number from 1 to 10 per individual. Our review identified 37 genetic conditions associated with PNH. With the cases reported here, 22q11.2DS becomes the fifth most commonly reported genetic condition, and the third most common copy number variation, associated with PNH.InterpretationThe neuropsychiatric manifestations in our patients with PNH support other data indicating abnormal neurodevelopment as part of the pathogenesis of 22q11.2DS.The location and cellular characteristics of PNH in 22q11.2DS overlaps with a group of migrating postnatal interneurons termed Arc cells, although more research is needed to confirm that PNH in 22q11.2DS represents Arc cells arrested in their migratory pathway.

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Neurologic challenges in 22q11.2 deletion syndrome

Hopkins

Chadehumbe

Crowley

et al. 2018

American J of Med Genetics Pt A

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Children with 22q11.2 deletion syndrome often come to medical attention due to signs and symptoms of neurologic dysfunction. It is imperative to understand the expected neurologic development of patients with this diagnosis in order to be alert for the potential neurologic complications, including cortical malformations, tethered cord, epilepsy, and movement disorders. We present an update of brain imaging findings from the CHOP 22q and You Center, a review of the current literature, and our current management practices for neurological issues.

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Epilepsy and Other Neuropsychiatric Manifestations in Children and Adolescents with 22q11.2 Deletion Syndrome

Cited by 24 publications

References 31 publications

Generalized Epilepsy and Myoclonic Seizures in 22q11.2 Deletion Syndrome

Generalized Epilepsy and Myoclonic Seizures in 22q11.2 Deletion Syndrome

Periventricular nodular heterotopia in 22q11.2 deletion and frontal lobe migration

Neurologic challenges in 22q11.2 deletion syndrome

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