癫痫持续状态（status epilepticus,SE）是指一次痫性发作持续30 min以上,或2次及以上痫性发作而意识不能恢复至正常状态持续30 min以上。临床上根据有无惊厥发作将SE分为惊厥癫痫持续状态（convulsive status epilepticus,CSE）和非惊...癫痫持续状态（status epilepticus,SE）是指一次痫性发作持续30 min以上,或2次及以上痫性发作而意识不能恢复至正常状态持续30 min以上。临床上根据有无惊厥发作将SE分为惊厥癫痫持续状态（convulsive status epilepticus,CSE）和非惊厥性癫痫持续状态（nonconvulsive status epilepticus,NCSE）。早于19世纪初期,展开更多
Objective: To describe seizure phenotypes associated with the hyperinsulinism /hyperammonemia syndrome (HI/HA), which is caused by gain of function mutations in the enzyme glutamate dehydrogenase (GDH). Study design: ...Objective: To describe seizure phenotypes associated with the hyperinsulinism /hyperammonemia syndrome (HI/HA), which is caused by gain of function mutations in the enzyme glutamate dehydrogenase (GDH). Study design: A retrospective revie w of records of 14 patients with HI/HA. Results: Nine patients had seizures as t he first symptom of HI/HA, and six had seizures in the absence of hypoglycemia. No electroencephalogram (EEG) background abnormalities were identified. In four patients, EEG recordings during seizures in the setting of normal blood glucose contained generalized epileptiform discharges. EEGs of three of these patients s howed 0.5- to 2- second generalized irregular spike- and- wave discharge at 3 to 6 Hz corresponding to eye blinks, eye rolling, or staring. The EEG of the f ourth patient consisted of 20 seconds of generalized regular spike- and- wave discharge at 3 Hz in the clinical context of staring and unresponsiveness. In tw o patients, seizure control worsened with carbamezapine or oxcarbezapine treatme nt. Conclusions: In patients with HI/HA, generalized seizures are common and can occur in the absence of hypoglycemia. The drugs carbamazepine and oxcarbazepine should be used with caution for treatment. Pathogenesis of epilepsy in these pa tients may be related to effects of GDH mutations in the brain, perhaps in combi nation with effects of recurrent hypoglycemia and chronic hyperammonemia.展开更多
文摘癫痫持续状态（status epilepticus,SE）是指一次痫性发作持续30 min以上,或2次及以上痫性发作而意识不能恢复至正常状态持续30 min以上。临床上根据有无惊厥发作将SE分为惊厥癫痫持续状态（convulsive status epilepticus,CSE）和非惊厥性癫痫持续状态（nonconvulsive status epilepticus,NCSE）。早于19世纪初期,
文摘Objective: To describe seizure phenotypes associated with the hyperinsulinism /hyperammonemia syndrome (HI/HA), which is caused by gain of function mutations in the enzyme glutamate dehydrogenase (GDH). Study design: A retrospective revie w of records of 14 patients with HI/HA. Results: Nine patients had seizures as t he first symptom of HI/HA, and six had seizures in the absence of hypoglycemia. No electroencephalogram (EEG) background abnormalities were identified. In four patients, EEG recordings during seizures in the setting of normal blood glucose contained generalized epileptiform discharges. EEGs of three of these patients s howed 0.5- to 2- second generalized irregular spike- and- wave discharge at 3 to 6 Hz corresponding to eye blinks, eye rolling, or staring. The EEG of the f ourth patient consisted of 20 seconds of generalized regular spike- and- wave discharge at 3 Hz in the clinical context of staring and unresponsiveness. In tw o patients, seizure control worsened with carbamezapine or oxcarbezapine treatme nt. Conclusions: In patients with HI/HA, generalized seizures are common and can occur in the absence of hypoglycemia. The drugs carbamazepine and oxcarbazepine should be used with caution for treatment. Pathogenesis of epilepsy in these pa tients may be related to effects of GDH mutations in the brain, perhaps in combi nation with effects of recurrent hypoglycemia and chronic hyperammonemia.
