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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

Alessandro Di Rocco; Andrea Loggini; Maja Di Rocco; Pietro Di Rocco; Roger Rossi; Giorgio Gimelli; Carl W. Bazil

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
Author(s):
Di Rocco, Alessandro
Loggini, Andrea
Di Rocco, Maja
Di Rocco, Pietro
Rossi, Roger
Gimelli, Giorgio
Bazil, Carl W.
Date:
Type:
Articles
Department(s):
Neurology
Volume:
13
Persistent URL:
Book/Journal Title:
BMC Neurology
Notes:
IDIC-15, GABA receptors, Pregabalin, Seizures, Lacosamide
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.
Subject(s):
Convulsions
Pregabalin
GABA--Receptors
Developmental disabilities
Developmental disabilities--Genetic aspects
Abnormalities, Human--Genetic aspects
Genetics
Medicine
Neurosciences
Publisher DOI:
https://doi.org/10.1186/1471-2377-13-43
Item views
68
Metadata:
text | xml
Suggested Citation:
Alessandro Di Rocco, Andrea Loggini, Maja Di Rocco, Pietro Di Rocco, Roger Rossi, Giorgio Gimelli, Carl W. Bazil, , 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, Columbia University Academic Commons, .

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