Khalid Hundallah
Prince Sultan Military Medical City, Saudi Arabia
Posters & Accepted Abstracts: J Neurol Neurophysiol
Background: 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 11 patients with severe early onset epileptic encephalopathy carrying KCNA2
mutations. All had 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 seizures burden and electroencephalography (EEG) studies were evaluated.
Results: 9 of the 11 children (81%) showed a significant improvement both clinically and electro-physiologically
and Acetazolamide is a potentially effective therapy in patients with early onset epileptic encephalopathy carrying
KCNA2 mutations.
Khalid Hundallah is a Consultant Pediatric Neurologist. He is the head of Pediatric Neurology, Prince Sultan Military Medical City. He is an Assistant Professor, Colleague of Medicine, Al-Imam `Mohd Ibn Saud University. He has completed his fellowship in McMaster University. He has published more than 18 papers in reputed journals and has been serving as an Associate Editor in the Neuroscience Journal (KSA).
E-mail: dr.k.hundallah@gmail.com
