Infantile Epileptic Encephalopathy With Multiple Genetic Mutations: How Important are Variants of Undetermined Significance?
Section snippets
Case Report
This male patient was born at 39-weeks gestation to a consanguineous Mexican Mennonite couple. Pregnancy and delivery were uncomplicated. Birth weight was 3.7 kg (75% percentile) and head circumference was normal (25–50th percentile). His family history is positive for epilepsy on father’s side of the family. The early postnatal course was unremarkable. However, at 50 days of age, Mom noticed stereotyped episodes of high-pitched crying and stiffening of his limbs. These were initially thought to
Discussion
IS is a devastating developmental epileptic encephalopathy syndrome characterized by flexion, extension, mixed (flexion-extension) or subtle epileptic spasms, and usually occurs during the first year of life. IS are associated with a chaotic, high-amplitude interictal epileptiform EEG pattern termed hypsarrhythmia. Patients with IS are at risk of profound psychomotor impairments due to the epileptic encephalopathy. The recommended first-line treatments for IS are hormonal (adrenocorticotropic
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