Berio Agostino, Piazzi Attilia
Dipartimento di Neuroscienze, Riabilitazione, Oftalmologia, Genetica e Scienze Materno-Infantili (DINOGMI), University of Genova, Largo Gaslini 5, Genova, Italy.
Cent Nerv Syst Agents Med Chem. 2015;15(2):95-8. doi: 10.2174/1871524915666150430161321.
The sea anemones (Cnidaria) produce neurotoxins, polypeptides active on voltage-gated sodium channels, which induce a non-inactivating condition, with consequent seizures and paralysis in zebrafish (Danio rerio). In humans, severe myoclonic epilepsy of infancy (SMEI) is due to SCN1A gene mutation, which causes a non-inactivating sodium channels condition with seizures. Some symptoms, such as age of first seizure, repetitive events, frequent status epilepticus, scarce responsiveness to antiepileptic drugs (AEDs), may be due to superimposed environmental causes. The authors report a case of SMEI treated for years with benzodiazepines and subsequently with valproate. The attenuation of the frequency of epileptic events and of time in seizing, but no change in burst duration and EEG events was observed. These results are similar to those reported in the literature about zebrafish scn1Lab mutant, which recapitulates the SCN1A symptoms and AED resistance occurring in humans. During seizures the production of polypeptides similar to sea anemones neurotoxins, causing repetitive seizures, status epilepticus, and AED resistance can be hypothesized in subjects with SCN1A mutation.
海葵（刺胞动物门）会产生神经毒素，即对电压门控钠通道有活性的多肽，这些多肽会诱发一种非失活状态，进而导致斑马鱼（斑马丹鱼）出现癫痫发作和麻痹。在人类中，婴儿严重肌阵挛性癫痫（SMEI）是由SCN1A基因突变引起的，该突变会导致钠通道处于非失活状态并引发癫痫发作。一些症状，如首次癫痫发作的年龄、反复出现的事件、频繁的癫痫持续状态、对抗癫痫药物（AEDs）反应不佳，可能是由叠加的环境因素导致的。作者报告了一例多年来一直使用苯二氮䓬类药物治疗，随后使用丙戊酸盐治疗的SMEI病例。观察到癫痫发作频率和发作时间有所减轻，但发作持续时间和脑电图事件没有变化。这些结果与文献中关于斑马鱼scn1Lab突变体的报道相似，该突变体概括了人类中出现的SCN1A症状和对AEDs的耐药性。在癫痫发作期间，可以推测在患有SCN1A突变的受试者中会产生类似于海葵神经毒素的多肽，从而导致反复癫痫发作、癫痫持续状态和对AEDs耐药。
