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Open Access 01-12-2013 | Case report

Paradoxical worsening of seizure activity with pregabalin in an adult with isodicentric 15 (IDIC-15) syndrome involving duplications of the GABRB3, GABRA5 and GABRG3 genes

Authors: Alessandro Di Rocco, Andrea Loggini, Maja Di Rocco, Pietro Di Rocco, Roger P Rossi, Giorgio Gimelli, Carl Bazil

Published in: BMC Neurology | Issue 1/2013

Abstract

Background

Isodicentric 15 syndrome (IDIC-15) is due to partial duplications of chromosome 15 that may includes the q11–13 region that includes genes encoding the α5 (GABRA5) and β3 - γ3 (GABRB3) receptor subunits. The disease causes intellectual and physical developmental delay, seizures, intellectual disability and behavioral disorders that may be related to abnormal GABA receptor function and morphology. Seizures are often severe and may be refractory to treatment. There are however no specific guidelines for the treatment of the seizures and it is unknown whether drugs that affect the GABAergic system have a different effect in IDIC-15 seizures.

Case presentation

We report the case of an adult individual with IDIC-15 whose complex-partial seizures worsened dramatically after the introduction of pregabalin, with increased seizure frequency, frequent generalization, and appearance of new seizure pattern. Her cognitive function and verbal skills also worsened during treatment with pregabalin. Her seizures and cognitive skills quickly improved after pregabalin was discontinued and treatment with lacosamide started.

Conclusion

As her genetic testing confirmed that her region of duplication included GABA receptor encoding genes, it is plausible that the worsening of seizures were due to induction of an abnormal GABAergic response to pregabalin.This case may help define proper therapeutic strategies for the treatment of IDIC-15 associated seizures.

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The pre-publication history for this paper can be accessed here:http://www.biomedcentral.com/1471-2377/13/43/prepub

Title: Paradoxical worsening of seizure activity with pregabalin in an adult with isodicentric 15 (IDIC-15) syndrome involving duplications of the GABRB3, GABRA5 and GABRG3 genes
Authors: Alessandro Di Rocco
Andrea Loggini
Maja Di Rocco
Pietro Di Rocco
Roger P Rossi
Giorgio Gimelli
Carl Bazil
Publication date: 01-12-2013
Publisher: BioMed Central
Published in: BMC Neurology / Issue 1/2013
Electronic ISSN: 1471-2377
DOI: https://doi.org/10.1186/1471-2377-13-43

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Paradoxical worsening of seizure activity with pregabalin in an adult with isodicentric 15 (IDIC-15) syndrome involving duplications of the GABRB3, GABRA5 and GABRG3 genes

Abstract

Background

Case presentation

Conclusion

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

Background

Case presentation

Conclusion

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