• Rapid diagnosis of KCNQ2 associated early infantile epileptic encephalopathy improved outcome

    2 monthes ago - By Pediatric Neurology

    Early infantile epileptic encephalopathies are a group of disorders with seizures presenting early in life. EIEE is associated with significant mortality and morbidity. Approximately 50 percent of the affected patients die in infancy and those who survive develop therapy-resistant epilepsy and significant developmental delays.1 Structural brain lesions, metabolic disorders and genetic mutations, including KCNQ2, have been linked to EIEE.1-3 Here, we report two neonates with EIEE due to KCNQ2 mutations, one with a novel mutation diagnosed through the rapid genomic sequencing program at Rady...
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