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Early infantile epileptic encephalopathy related to NECAP1: Clinical delineation of the disease and review

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Epileptic encephalopathy (EE) refers to a heterogeneous group of epilepsy syndromes characterized by seizures as well as encephalopathies, leading to cognitive and behavioral disturbances. These conditions vary in their age… Click to show full abstract

Epileptic encephalopathy (EE) refers to a heterogeneous group of epilepsy syndromes characterized by seizures as well as encephalopathies, leading to cognitive and behavioral disturbances. These conditions vary in their age at onset, their severity, and their electroencephalographic patterns. Whereas genetic factors are involved in approximately 40% of all epilepsy cases, they contribute to 80% of early infantile EEs (EIEEs), with approximately 125 genes previously linked to this disease.

Keywords: early infantile; infantile epileptic; encephalopathy related; epileptic encephalopathy; related necap1; necap1 clinical

Journal Title: European Journal of Neurology
Year Published: 2022

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