Epileptic encephalopathy is a heterogeneous group of epilepsy syndromes associated with severe cognitive and behavioral disturbances characterized by spontaneous, recurrent seizures and neurodevelopmental impairment. Epileptic encephalopathy include eight syndromes: Ohtahara syndrome, Dravet syndrome, West syndrome, myoclonic status in nonprogressive encephalopathies, Landau-Kleffner syndrome, Lennox-Gastaut syndrome, and epilepsy with continuous spike waves during slow-wave sleep. These syndromes vary in their age of onset, seizure types, developmental outcome, etiologies, EEG patterns, neuropsychological deficits, and prognosis. EIEE32 is a subtype of epileptic encephalopathy caused due to mutations in the KCNA2 gene.
The disease prognosis is very poor, with most affected children either dying or being severely neurologically impaired.
Mutations in the KCNA2 gene, located on 1p13.3 chromosome, have been identified in patients with early infantile epileptic encephalopathy 32 (EIEE32). This gene codes for a member of the voltage-gated potassium channel family. To date, only nine patients have been reported with mutations in the KCNA2 gene.
See: [Sudan > Hundallah et al., (2016)]
Hundallah et al., (2016) described an infant who had seizures on the first day of life in the form of clonic and myoclonic jerks, with frequent daily attacks. He was born to healthy non-consanguineous Sudanese parents living in Saudi Arabia. He developed encephalopathy, axial and appendicular hypotonia, and developmental delay. At the age of 4 months he had focal seizures with secondary generalization, which evolved at the age of 18 months to focal and tonic convulsions during sleep. There was rapid improvement when he started acetazolamide drug, but no improvement was noticed in his milestones. Whole-exome sequencing revealed a novel de novo gain-of-function mutation in the KCNA2 gene.
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