INTRODUCTION:

Epileptic encephalopathies represent a group of devastating epileptic disorders that appear early in life.

METHODOLOGY:

All children under 2 yrs of age presenting with seizures with motor/cognitive impairment with EEG (ictal or interictal) showing features of epileptic encephalopathy were enrolled between may 2016 to March 2018. All patients underwent neuroimaging, EEG and were evaluated for  metabolic causes. Clinical exome sequencing was used to identify genetic mutations related to epileptic encephalopathy. Children with obvious perinatal insults/acquired structural abnormalities were excluded.

RESULTS:

The mean age at onset of seizures was 3.92 ± 2.66 months, mean age of presentation to our hospital was 6.28 ± 3.73 months, 25/40  had Clinical Exome, genetic mutations related to epileptic encephalopathy were detected in 21(84%) patients. 18/21 patients had proven aetiology and 3 patients were considered probable genetic etiology. On follow-up, 12 patients were seizure free, 20 had partial control, 5 had persistent seizures and three died. Motor developmental delay and cognitive delay was seen in 32 (86.4%) and 31 (83.7%) patients respectively. 9 (22.5%) children had good outcome on follow-up while poor outcome (Glasgow outcome scale) was seen in 31 (77.5%) patients.

CONCLUSION:

The genetic evaluation using Clinical exome sequencing had high yield in identifying the etiology of epileptic encephalopathy. Proven aetiology was seen in 18/25 with 3 cases being genetic/metabolic and 15 genetic cases. More than 75% of the children had a poor outcome on follow-up.