The latest research, treatments, and findings from the Epilepsy Center at Boston Children's Hospital.
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When a child loses milestones, consider sleep EEG studies
When a young child begins losing language, walking skills and fine motor abilities, or is slow to achieve them, a nighttime EEG may reveal previously undetected but treatable epileptiform activity, suggests research from Boston Children’s Epilepsy Center.
A team led by epileptologist Tobias Loddenkemper, MD, reviewed overnight EEG recordings from patients who were referred for evaluation at Boston Children’s over a 14-year period. Of 147 patients, 100 had prominent spikes in their EEGs, reflecting epileptiform activity (Neurology, May 29, 2012). About one in five of them had no known epilepsy, but 48 percent had MRI lesions suggesting early strokes, most often seen in the thalamus.
Probing epilepsy’s genetic causes
Brain tissue from epilepsy surgery is providing increasing insight into epilepsy’s genetic origins. Recently, epileptologist Annapurna Poduri, MD, MPH, uncovered a genetic cause for hemimegalencephaly—enlargement and malformation of an entire brain hemisphere—by studying the brains of children who had undergone hemispherectomy.
The Epilepsy Genetics Program also recently found a tiny chromosome deletion in an infant with malignant migrating partial seizures in infancy (MMPEI), an early-onset form of epilepsy. The team is now enrolling patients in a study of Ohtahara syndrome, another rare epilepsy that begins shortly after birth, and is investigating the cause of epilepsy in an extended family whose ancestors came to Massachusetts from a relatively isolated island off the Irish coast.