Response to Carbamazepine in KCNQ2 Related Early Infantile Epileptic Encephalopathy

Excerpt

To the Editor: A boy was born to non-consanguineous parents at term by an uncomplicated normal vaginal delivery after an uneventful antenatal period. He was well till day seven of life after which, he developed repeated seizures. The seizures were characterized by up-rolling of eyeballs and generalized stiffening of body followed by a cry. Each episode lasted for 30 to 40 s and 15–20 episodes/d. He was hospitalized and started on oral phenobarbitone (5 mg/kg/d). His blood sugar and serum calcium were normal. There was no family history of any neurological disorder. He was examined on day 28 of life and was found to be excessively sleepy; rest of the examination was unremarkable. A clinical diagnosis of early infantile epileptic encephalopathy was made. MRI of the brain was normal. Electroencephalogram (EEG) showed a burst attenuation pattern (Fig. 1).

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