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Epileptic Disorders

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Epileptic spasms in congenital disorders of glycosylation Volume 19, numéro 1, March 2017

"Patient 1. A 9-month-old girl with a long-lasting cluster of spasms (lasting for 7 minutes) upon awakening. Clinical manifestations of spasms are subtle, consisting of very discrete elevation of the shoulders and extension of arms, accompanied by discrete activity arrest and/or eye revulsion. In between the spasms, the child shows chewing movements and in the second part of the cluster, crying. Some discrete distal myoclonias of both arms are apparent. EMG1: right deltoid; EMG2: left deltoïd. Patient 2. An 18-month-old boy with a long-lasting cluster of spasms upon awakening, with cortical myoclonias in sleep. At the start, there are discrete eye revulsion movements, progressively accompanied by motor manifestations consisting of asymmetric (predominately of the right arm) and asynchronous brief jerks concerning the head, shoulders, trunk, and arms. During the whole cluster, the child appears frightened and demonstrates chewing movements between the jerks. EMG2: right deltoid; ECG: left deltoid. Patient 3. An 11-month-old boy with a long-lasting cluster of spasms upon awakening. Discrete motor manifestations consisting of flexion of both legs, associated with extension of the arms and movements of the head, are apparent. Between spasms, the patient demonstrates chewing movements and salivation. EMG1: right deltoid; EMG2: left deltoïd. Patient 4. A 4-year-old boy with four isolated massive jerks with sudden extension of the arms and legs, accompanied by eye revulsion and head deviation towards the right side, followed by chewing movements, during sleep or wakefulness. Cortical myoclonus in sleep is also apparent. EMG2: right deltoid; ECG: left deltoid Patient 5. A 2-year-old girl with discrete brief tonic contractions with extension of the four limbs, sometimes predominating over the right arm and left leg, associated with eye revulsion, either isolated or in series. Isolated jerks with subtle extension of both arms and massive flexion of both legs, accompanied by eye revulsion, are also apparent.EMG2:right deltoid; ECG: left deltoid."

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