Medically Refractory Epilepsy Comorbid with Psychogenic Non-Epileptic Seizures and Intellectual Disability in a Patient with Balanced t(14;X) Translocation

We present the case of a women in her 30’s with treatment-resistant epilepsy (TRE), psychogenic non-epileptic seizures, intellectual disability, psychosis, and a maternally inherited balanced t(14;X)(q32.3;p11.2) translocation. Despite multiple antiepileptic drugs, vagus nerve stimulation, and deep brain stimulation (DBS) of the anterior thalamic nuclei, she continues to experience daily seizures. DBS implantation led to partial seizure reduction but was complicated by worsening behavioral disturbances, consistent with reported psychiatric side effects and the phenomenon of forced normalization. This case highlights the complex interplay between epilepsy, psychiatric comorbidities, and neurostimulation, as well as the potential genetic underpinnings of TRE. The association of balanced X-autosome translocations with intellectual disability and epilepsy suggests pathogenic disruption of neurodevelopmental genes influencing inhibitory signalling. Awareness of psychiatric risks in DBS recipients and consideration of genetic etiologies are essential for optimizing management strategies in refractory epilepsy.