22q11.2-Mikrodeletion mit atypischen Absencen, Dysmorphie und Skoliose

Bernhard, Matthias K.; Kantzer, A.-K.; Kujat, Annegret; Merkenschlager, Andreas

doi:10.1007/s00112-006-1322-7

Cited by 2 publications

(6 citation statements)

References 10 publications

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“…The EEGs of these mice were indicative for 'atypical' rather than 'typical' absence seizures paralleling previous reports [Roubertie et al, 2001;Bernhard et al, 2007].…”

Section: Discussionsupporting

confidence: 70%

“…Another report described atypical absence epilepsy in an individual with 22q11DS [Roubertie et al, 2001]. 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].…”

Section: Cohort Of 173 22q11ds Patientssupporting

confidence: 65%

“…Eight of the 22 patients with GGE (15%) had additional myoclonic features. In 6 of them these were unspecific (11%), whereas in at least 2 cases (4%), the phenotype supported a diagnosis of JME [Roubertie et al, 2001;El Tahir et al, 2004;Kao et al, 2004;Bernhard et al, 2007;Lemke et al, 2009;de Kovel et al, 2010;Lal et al, 2015;Kim et al, 2016]. Additional 3 patients (6%) had myoclonic jerks and unspecified epilepsy, and 3 patients (6%) had unspecified epilepsy without myoclonic features ( fig.…”

Section: Cohort Of 173 22q11ds Patientsmentioning

confidence: 99%

“…Twenty-five of these patients (47%) were diagnosed with focal epilepsy [Coppola et al, 2001;Roubertie et al, 2001;El Tahir et al, 2004;Kao et al, 2004;Bernhard et al, 2007;Lemke et al, 2009;de Kovel et al, 2010;Boot et al, 2015;Lal et al, 2015;Kim et al, 2016]. Twenty-two patients (41%) had the diagnosis of GGE.…”

Section: Cohort Of 173 22q11ds Patientsmentioning

confidence: 99%

“…Isolated case reports focussed on epilepsy phenotypes in 22q11DS and described individuals with Rolandic-like epilepsy [Coppola et al, 2001], atypical absences [Roubertie et al, 2001;Bernhard et al, 2007], generalized epilepsy with myoclonic jerks, or JME [El Tahir et al, 2004;Lemke et al, 2009]. Prompted by these reports and the description of CNVs in a subset of GGE cases, we reviewed published and unpublished 22q11DS cases with respect to their epilepsy phenotype and collected further individuals with 22q11DS and GGE/JME.…”

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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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“…The EEGs of these mice were indicative for 'atypical' rather than 'typical' absence seizures paralleling previous reports [Roubertie et al, 2001;Bernhard et al, 2007].…”

Section: Discussionsupporting

confidence: 70%

Section: Cohort Of 173 22q11ds Patientssupporting

confidence: 65%

Section: Cohort Of 173 22q11ds Patientsmentioning

confidence: 99%

Section: Cohort Of 173 22q11ds Patientsmentioning

confidence: 99%

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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Myoclonic epilepsy, parkinsonism, schizophrenia and left-handedness as common neuropsychiatric features in 22q11.2 deletion syndrome

et al. 2019

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Background22q11.2 deletion syndrome (22q11.2DS) is considered as the genetic model of schizophrenia. However, its polymorphic nature has led researchers to further investigate its neuropsychiatric manifestations.MethodsWe enrolled 56 adults (38 men, 18 women) diagnosed with 22q11.2DS. All subjects were evaluated by a multidisciplinary team. The neuropsychiatric features were investigated by means of clinical and neurophysiological evaluation (video-EEG).ResultsThirty per cent of our patients were left-handed. Fifty-eight per cent had a low IQ, and 22 of 56 subjects had psychotic disorders (13 of 22 with schizophrenia). Eighteen patients reported at least one seizure in their lifetime, and ten were diagnosed with epilepsy; among them, seven had genetic generalised epilepsy (GGE), and five of seven showed features suggestive of juvenile myoclonic epilepsy (JME). Video-EEG recordings revealed generalised epileptiform abnormalities in 24 of 56 cases. Besides, only one patient with epilepsy had a cardiac malformation. Lastly, 31 of 56 subjects presented with parkinsonism, 16 of whom were taking neuroleptics. None of the 15 patients with parkinsonism not related to neuroleptic therapy was diagnosed with epilepsy, compared with 6 of those taking antipsychotics.Conclusions22q11.2DS is characterised by left-handedness and neuropsychiatric features such as cognitive impairment, schizophrenia, epilepsy and parkinsonism. GGE, mostly the JME phenotype, is the predominant epilepsy type. The significant association between 22q11.2DS and parkinsonian features confirms these patients’ genetic susceptibility to parkinsonism. Despite the lack of any conclusive evidence, our study suggests a possible relationship between the analysed clinical variables: (1) an inverse correlation between low IQ/psychosis/epilepsy and major cardiac diseases; (2) a direct association between psychosis and both mental delay and epilepsy; and (3) an inverse correlation between parkinsonism and epilepsy.

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22q11.2-Mikrodeletion mit atypischen Absencen, Dysmorphie und Skoliose

Cited by 2 publications

References 10 publications

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

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

Myoclonic epilepsy, parkinsonism, schizophrenia and left-handedness as common neuropsychiatric features in 22q11.2 deletion syndrome

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