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Background

Recently, de novo loss- or gain-of-function mutations in KCNA2 gene; have been described in individuals with epileptic encephalopathy, ataxia or intellectual disability. Seizures are usually refractory to antiepileptic medications.

Aim Access the effect of acetazolamide on patients with early onset epileptic encephalopathy caused by KCNA2 gene mutation both clinically and electro-physiologically. Methods

We report a cohort of 8 patients with sever early onset epileptic encephalopathy carrying KCNA2 mutations. All had a refractory seizures resistant to multiple antiepileptic drugs, significant developmental delay and slowing of EEG background. We started them on acetazolamide after antiepileptic medications failed. Pre- and post-therapy electroencephalography (EEG) studies were evaluated. 7 of the 8 children (87%) showed a significant improvement both clinically and electro-physiologically.

Results

Acetazolamide is an effective therapy in patients with early onset epileptic encephalopathy carrying KCNA2 mutations.