Periodic EEG patterns in sporadic Creutzfeld-Jakob-Disease can be benzodiazepine-responsive and interpreted as non-convulsive status epilepticus

Periodic discharges in EEG and a history of rapidly progressive dementia are known to be associated with sporadic Creutzfeld-Jakob Disease (sCJD). Doubts regarding this rare but fatal diagnosis can arise, when episodic symptoms (seizures, psychiatric features, speech disturbances) are present and the EEG shows epileptiform discharges within this periodicity. This scenario may indicate non-convulsive status epilepticus (NCSE), which is − in contrast to sCJD − a treatable and frequent condition.

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A STEREO EEG STUDY IN A PATIENT WITH SLEEP-RELATED HYPERMOTOR EPILEPSY DUE TO DEPDC5 MUTATION

Dishevelled EGL-10 and pleckstrin domain-containing protein 5 (DEPDC5) mutations are found in a wide spectrum of focal epilepsies ranging from epilepsy caused by malformation of cortical development to non-lesional epilepsy, including sleep-related hypermotor epilepsy (SHE). A surgical approach has been anecdotally reported in patients with DEPDC5 mutations, but most of these cases had a lesional etiology.

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