Carnitine-acylcarnitine translocase deficiency
Sep. 28, 2023
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Toll Free (U.S. + Canada): 800-452-2400
US Number: +1-619-640-4660
Support: service@medlink.com
Editor: editor@medlink.com
ISSN: 2831-9125
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Six-year-old monozygotic twins presented with frequent (>10) typical absence seizures. Sleep-awake video-EEGs showed normal background activity and typical generalized spike-wave discharges with concomitant absences provoked during hyperventilation. (Contributed by Dr. Athanasios Covanis.)