INTRODUCTION

GABAA receptors mediate the majority of fast inhibitory neurotransmission and control network excitability in the brain. The α1β2γ2 receptor is the most abundant GABAA receptor subtype in the CNS. The γ2 subunits play important roles in receptor trafficking, clustering, synaptic maintenance. Mutations in GABRG2 have been associated with simple febrile seizures and with genetic epilepsy syndromes, including childhood absence epilepsy, generalized epilepsy with febrile seizures plus, and Dravet syndrome or severe myoclonic epilepsy in infancy. However, as a de novo mutation, there have been reported only 8 patients with a epileptic encephalopathy phenotype.

AIM

To report a patient with Epileptic Encephalopathy secondary to GABRG2 mutation.

METHODS AND RESULTS

We describe clinical and electroencephalographic features of a newborn girl with early onset seizures refractary to antiepileptic drugs. She progressed with developmental delay.

Brain MRI showed ventroculomegaly and a thin corpus callosum. We found a disorganized electroencephalogram with alterned spike foci and right temporal predominance. Neurometabolic studies were normal.

The epileptic encephalopathy genetic panel confirmed a GABRG2 mutation.

CONCLUSION

Our case represents a report of a missense mutation in the β2 subunit of the GABAA receptor as a cause of genetic epilepsy encephalopathy and developmental delay. Although the Whole Exome sequence is a powerful diagnostic tool in genetic epilepsy, it has a high cost and difficult access in our country. We highlight the importance of using encephalopathy epileptic genetic panels as a more available option which should help to reduce healthcare costs.