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Epilepsia. 2017 Jun;58(6):1095-1101. doi: 10.1111/epi.13748. Epub 2017 Apr 27.

22q11.2 deletion syndrome lowers seizure threshold in adult patients without epilepsy.

Author information

1
Division of Neurology, Department of Medicine, Toronto Western Hospital, Krembil Neuroscience Centre, University of Toronto, Toronto, Ontario, Canada.
2
Department of Neurology, Clinical Neurosciences Center, University of Utah, Salt Lake City, Utah, U.S.A.
3
Krembil Neurosciences Epilepsy Genetics Program, Toronto Western Hospital, University of Toronto, Toronto, Ontario, Canada.
4
Clinical Genetics Research Program, Centre for Addiction and Mental Health, Toronto, Ontario, Canada.
5
Institute of Medical Science, University of Toronto, Toronto, Ontario, Canada.
6
Department of Psychiatry, University of Toronto, Toronto, Ontario, Canada.
7
Division of Cardiology, Department of Medicine, Dalglish Family Hearts and Minds Clinic for Adults with 22q11.2 Deletion Syndrome, Toronto General Research Institute, University Health Network, Toronto, Ontario, Canada.
8
Department of Psychiatry, University Health Network, Toronto, Ontario, Canada.
9
Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health, Toronto, Ontario, Canada.

Abstract

OBJECTIVE:

Previous studies examining seizures in patients with 22q11.2 deletion syndrome (22q11.2DS) have focused primarily on children and adolescents. In this study we investigated the prevalence and characteristics of seizures and epilepsy in an adult 22q11.2DS population.

METHODS:

The medical records of 202 adult patients with 22q11.2DS were retrospectively reviewed for documentation of seizures, electroencephalography (EEG) reports, and magnetic resonance imaging (MRI) findings. Epilepsy status was assigned in accordance with 2010 International League Against Epilepsy Classification.

RESULTS:

Of 202 patients, 32 (15.8%) had a documented history of seizure. Of these 32, 23 (71.8%) had acute symptomatic seizures, usually associated with hypocalcemia and/or antipsychotic or antidepressant use. Nine patients (9/32, 28%; 9/202, 4%) met diagnostic criteria for epilepsy. Two patients had genetic generalized epilepsy; two patients had focal seizures of unknown etiology; two had epilepsy due to malformations of cortical development; in two the epilepsy was due to acquired structural changes; and in one patient the epilepsy could not be further classified.

SIGNIFICANCE:

Similarly to children, the prevalence of epilepsy and acute symptomatic seizures in adults with 22q11.2DS is higher than in the general population. Hypocalcemia continues to be a risk factor for adults, but differently from kids, the main cause of seizures in adults with 22q11.2DS is exposure to antipsychotics and antidepressants. Further prospective studies are warranted to investigate how 22q11.2 microdeletion leads to an overall decreased seizure threshold.

KEYWORDS:

Acute symptomatic seizure; Clozapine; Electroencephalography; Genetics; Prevalence studies; Provoked seizures; Seizure semiology

PMID:
28448680
DOI:
10.1111/epi.13748
[Indexed for MEDLINE]
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