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
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Published in |
BMC Neurology, May 2013
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DOI | 10.1186/1471-2377-13-43 |
Pubmed ID | |
Authors |
Alessandro Di Rocco, Andrea Loggini, Maja Di Rocco, Pietro Di Rocco, Roger P Rossi, Giorgio Gimelli, Carl Bazil |
Abstract |
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. |
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