Acta Epileptologica最新文献

Background: There is a lack of further exploration of the epileptogenic network of specific types of epilepsy, such as unilateral hippocampal sclerosis (HS), and there is an urgent need to find exact evidence to confirm the consistency of its brain network changes.

Methods: We enrolled 22 mesial temporal lobe epilepsy with hippocampal sclerosis (mTLE-HS) patients to compare the differences in brain activity between 22 healthy controls (HCs) and them. Resting-state electroencephalography (EEG) was also measured. Then, we calculated the power spectral density and phase locking values in and between these electrodes.

Results: The results showed the increased theta power was related to the high severity of epilepsy in the temporal, parietal, and central regions in mTLE-HS patients, and there were positive correlations between theta power in the contralateral temporal region and seizure frequency. Theta power in the ipsilateral parietal lobe is positively correlated with the number of anti-seizure medications (ASMs), but not with the usage of third-generation ASMs. Meanwhile, the temporal lobe of mTLE-HS patients had more connectivity with parietal lobe and central region.

Conclusions: Theta power is an important EEG indicator of mTLE-HS, positively correlates with epilepsy severity and seizure frequency, and has network properties that can be observed outside the lesion. Moreover, the usage of third-generation ASMs did not affect the risk of increased theta power. Lastly, the temporoparietal and temporal-central networks are likely to be causative pathways in epilepsy patients with cognitive impairment. This study provides a potential guideline for the treatment of mTLE-HS in clinical practice.

Epilepsy can be caused by a variety of causes, such as inborn errors of metabolism, organic acid disorders are the most significant type of metabolic disorders that cause seizures. The clinical manifestations of these diseases are generally nonspecific, and the types of seizures are different. Screening for multisystem clinical symptoms and identifying the underlying etiology are crucial for early treatment of epileptic seizures. This article provides a comprehensive summary of the pathogenesis, clinical features, diagnosis and treatment of epilepsy associated with organic acid metabolism disorders. Furthermore, relevant literature has also been reviewed to assist clinicians in the diagnosis of cases characterized by the coexistence of multisystemic symptoms and epileptic manifestations.

Backgroud: Epileptic spasms followed by a tonic component have been frequently observed in patients with late-onset spasms (LOS). However, there is a lack of comprehensive analysis and summary of clinical data related to tonic spasms (TS), including seizures, video-electroencephalogram (V-EEG), synchronous electromyography (EMG) and follow-up data.

Methods: To investigate the characteristics of TS, we prospectively collected the clinical data, including 24-h V-EEG and synchronous EMG data of 32 enrolled patients who suffered from epileptic spasms followed by a TS onset at least once during the 24-h V-EEG in the epilepsy center of Xijing Hospital between June 2015 and July 2020. The patients were prescribed anti-seizure medications (ASMs) and followed up for 2-7 years.

Results: The average age of epilepsy onset was 48.06 ± 16.07 months (range: 25 to 88 months). Among the enrolled patients, 22 patients presented with mild intellectual deficits. During the 24-h video-EEG monitoring, an average of 6.94 TS events (range: 3 to 21) were recorded, and these TS seizures often occurred in clusters. In addition to TS, 26 patients experienced generalized tonic-clonic seizures (GTCS), atypical absence seizures, myoclonic seizure, and epileptic spasms. None of the 32 patients with TS displayed hypsarrhythmia during the 24-h video-EEG recording. A total of 28 patients showed normal EEG backgrounds. Interictal epileptic discharges, including slow waves (SW), spike/sharp slow waves (SSW), and spikes, often displayed multifocally. Notably, two patients achieved seizure freedom for more than 2 years through monotherapy with oxcarbazepine (OXC), which was associated with normalization of the EEG.

Conclusions: It is difficult to classify the patients with TS as any existing epileptic syndromes, which were distinct from West syndrome or Lennox-Gastaut syndrome. TS might be an underreported seizure type and further studies are needed to gain a more comprehensive understanding of the electro-clinical features and appropriate choice of ASMs for treating tonic spasms.

Background: Sandhoff disease (SD) i s an autosomal recessive lysosomal disease with clinical manifestations such as epilepsy, psychomotor retardation and developmental delay. However, infantile SD with onset of infantile epilepsy spasm syndrome (IESS) is extremely rare.

Case presentation: The case presented here was a 22-month-old boy, who presented with IESS and psychomotor retardation/regression at 6 months of age. The patient showed progressive aggravation of seizures and excessive startle responses. The whole exome sequencing data, which initially revealed negative results, were reanalyzed and indicated a homozygous mutation at the c.1613 + 4del splice site of the HEXB gene. The activities of β-hexosaminidase A and total hexosaminidase were significantly decreased. The fundus examination showed cherry red spots at the macula.

Conclusions: IESS can be an epileptic phenotype of infantile SD. Clinical phenotypes should be adequately collected in genetic testing. In the case of negative sequencing results, gene variant reanalysis can be performed when the patients show clinically suspicious indications.