Utilization of EEG microstates as a prospective biomarker for assessing the impact of ketogenic diet in GLUT1-DS.

OBJECTIVE: The aim of the study is to analyze microstate patterns in GLUT1-DS, both before and after the ketogenic diet (KD). METHODS: We conducted microstate analysis of a patient with GLUT-1 DS and 27 healthy controls. A systematic literature review and meta-analysis was done. We compared the parameters of the patients with those of healthy controls and the incorporating findings in literature. RESULTS: The durations of the patient were notably shorter, and the occurrence rates were longer than those of healthy controls and incorporating findings from the review. After 10 months of KD, the patient's microstate durations exhibited an increase from 53.05 ms, 57.17 ms, 61.80 ms, and 49.49 ms to 60.53 ms, 63.27 ms, 71.11 ms, and 66.55 ms. The occurrence rates changed from 4.0774 Hz, 4.9462 Hz, 4.8006 Hz, and 4.0579 Hz to 3.3354 Hz, 3.7893 Hz, 3.5956 Hz, and 4.1672 Hz. In healthy controls, the durations of microstate class A, B, C, and D were 61.86 ms, 63.58 ms, 70.57 ms, and 72.00 ms, respectively. CONCLUSIONS: Our findings suggest EEG microstates may be a promising biomarker for monitoring the effect of KD. Administration of KD may normalize the dysfunctional patterns of temporal parameters.

Power spectrum analysis and outcomes of non-convulsive status epilepticus: a single-center study.

OBJECTIVES: Diagnosis of non-convulsive status epilepticus (NCSE) is challenging and outcomes during follow-up are not clear. This study aimed to conduct power spectrum analysis in NCSE and measure outcomes of patients. METHODS: We searched continuous EEG monitoring (cEEG) recordings to identify patients of NCSE. An artifact-free cEEG epoch of continuous 60 s was chosen for spectral power analysis. We also collected electronic medical records of the patients for extracting clinical information. Patients recruited were followed up at least every half a year. RESULTS: There were 48 patients with 64 independent NCSE episodes during different course of disease recruited in the study, with a mean age of 40.3 ± 19.1 years (range, 12-72 years), including 24 males (50%) and 24 females (50%). When the spectral power of 60 s equaled to 11.30 µV2 for predicting impairment of consciousness, (sensitivity, specificity) = (0.979, 0.625). When the spectral power of 60 s equaled to 52.70 µV2 for predicting myoclonic jerks, (sensitivity, specificity) = (0.783, 0.756). There were 27 patients (56.3%) followed up with a duration over 12 months. Nineteen patients (70.4%) continued to have seizures. Eleven (40.7%) resisted to at least two kinds of appropriate anti-seizure medication at maximum tolerated levels. Five patients with prolonged NCSE suffered from loss of brain parenchymal volume on follow-up MRI scans. CONCLUSION: Spectral power analysis can be used to detect mental status and limb jerks. Early diagnosis and treatment of NCSE are important, which can influence outcomes of the patients during follow-up.

Genetic analysis of 18 families with tuberous sclerosis complex.

Tuberous sclerosis complex (TSC) is mainly caused by variants in TSC1 and TSC2, which encodes hamartin protein and tuberin protein, respectively. Here, we report clinical and molecular characteristics of 18 families with TSC. High-throughput DNA sequencing was employed to detect variants in all the exons and flanking region of TSC1 and TSC2. TA clone and real-time PCR were performed to verify the pathogenicity of candidate variants. A total of 17 mutations were identified, including 13 mutations in TSC2 and 4 mutations in TSC1. Fifty-six percent (10/18) of the families carried de novo mutations, and 8 of these mutations were not reported previously. Most mutations detected were loss-of-function mutations (15/17). One splice-site mutation (TSC2 c.599 + 5G > A) caused abnormal splicing and was confirmed by in vitro analysis. Facial angiofibromas (94%) and epilepsy (89%) were the most prevalent clinical features in our patients. Treatment with anti-seizure medication (ASM) or in combination with rapamycin results in clinical remission in most patients with TSC-associated seizures (14/15). For genotype-phenotype correlation, patients in our cohort with TSC2 mutations had an earlier onset age and patients with TSC1 showed better response to ASM. Our study has expanded the spectrum of TSC1 and TSC2 causing TSC.

Long-term seizure outcomes in patients with anti-Leucine-rich glioma-inactivated 1 encephalitis.

BACKGROUND: This study aimed to investigate the semiology of seizure disorders, including electroencephalographic characteristics, and seizure outcomes in participants with anti-leucine-rich glioma-inactivated 1 (LGI-1) encephalitis. METHODS: Seventy participants who presented with seizures during the acute phase of anti-LGI-1 encephalitis at Peking Union Medical College Hospital from May 2013 to July 2020 were reviewed. All participants underwent follow-up for longer than 2 years. RESULTS: At the time of presentation, 48 (68.6%) participants had generalized seizures and 57 (81.4%) had focal seizures. The most common focal motor seizures were faciobrachial dystonic seizures (FDS). The main manifestations of focal nonmotor seizures were dyscognitive features, goosebumps, and disorders of sensation. All participants received immunomodulatory therapy. Thirty-five (50%) participants were seizure free after 1 year of follow-up, and 48 (68.6%) participants were seizure free over a follow-up of 2 years. Participants with seizures continued longer than 1 year were older than participants whose seizure duration was shorter than 1 year (P = 0.021). However, after an extended follow-up period, the difference between the incidences of seizures based on age was not significant. The frequency of focal motor seizures was higher in participants who became seizure free within 1 year, compared to participants who had seizures for longer than 1 year (75% vs 54.3%, respectively; P = 0.015). Participants with seizures continued over 2 years tended to have focal nonmotor seizures, and tended to show an elevated incidence of abnormal EEG results. Participants receiving early corticosteroid and longer duration immunosuppressant treatments, tended to have a lower risk of persistent seizures and better seizure outcomes, with no statistical significance. CONCLUSIONS: Most participants obtained remission from seizures after immunomodulatory therapy. The seizure manifestation of anti-LGI1 encephalitis is diverse and variable. The type of focal seizures may affect the outcome of participants with seizures. Older age could lead to longer duration of the seizure disorder, but did not affect the rate of seizures over the long term. Early and prolonged administration of immunomodulatory therapy may be useful for shortening the time to becoming seizure free.

Video electroencephalogram combined with electromyography in the diagnosis of hyperkinetic movement disorders with an unknown cause.

OBJECTIVES: Diagnosis of hyperkinetic movement disorders with an unknown cause is usually challenging. The objective of this study is to learn about video electroencephalogram (VEEG) combined with electromyography (EMG) in the diagnosis of hyperkinetic movement disorders with an unknown cause. METHODS: We performed an observational cohort study by recruiting consecutive patients with hyperkinetic movements as the main manifestation with an unknown cause for VEEG combined with EMG evaluations. RESULTS: A total of 77 consecutive patients were enrolled for VEEG-EMG examination. Among them, 57 patients changed their diagnosis after VEEG-EMG assessment, with a mean final diagnosis age of 35.4 ± 20.3 years (range, 4-74 years). The mean duration between initial and final diagnosis was 54.8 ± 71.3 months (range 0.5-300 months). The most common misdiagnosed hyperkinetic movement disorders were myoclonus (40.4%), followed by tremors (24.6%), dystonia (15.8%), psychogenic movement disorders (10.5%), and periodic leg movement syndrome (PLMS) (7.0%). Outcomes of therapy were significantly improved after VEEG-EMG examination (p = 0.000). CONCLUSIONS: Simultaneous VEEG and EMG are important in the diagnosis of hyperkinetic movement disorders with an unknown cause.

[Lateralizing value of dystonic posturing in patients with mesial temporal lobe epilepsy].

OBJECTIVE: To explore the lateralizing value of dystonic posturing (DP) of upper limb in patients with refractory mesial temporal lobe epilepsy (MTLE). METHODS: Presurgical videotypes of 89 patients staying seizure-free for at least 2 years after temporal lobectomy were retrospectively reviewed. Attention was paid to temporal correlation between occurrence of DP and seizure and the relationship of DP to side of epileptogenic zone (resected side). RESULTS: DP was observed in 92 complex partial seizure (CPS) from 37 (41.6%) patients among 89 patients with a total of 424 CPS. DP was not an initial symptom in the course of CPS and its onset occurred mostly in the middle third of ictus. DP displayed a high positive predictive value of 93.9% for lateralizing a contralateral seizure onset. CONCLUSION: DP is a reliable lateralizing sign in patients with MTLE.

vEpiNet: A multimodal interictal epileptiform discharge detection method based on video and electroencephalogram data.

To enhance deep learning-based automated interictal epileptiform discharge (IED) detection, this study proposes a multimodal method, vEpiNet, that leverages video and electroencephalogram (EEG) data. Datasets comprise 24 931 IED (from 484 patients) and 166 094 non-IED 4-second video-EEG segments. The video data is processed by the proposed patient detection method, with frame difference and Simple Keypoints (SKPS) capturing patients' movements. EEG data is processed with EfficientNetV2. The video and EEG features are fused via a multilayer perceptron. We developed a comparative model, termed nEpiNet, to test the effectiveness of the video feature in vEpiNet. The 10-fold cross-validation was used for testing. The 10-fold cross-validation showed high areas under the receiver operating characteristic curve (AUROC) in both models, with a slightly superior AUROC (0.9902) in vEpiNet compared to nEpiNet (0.9878). Moreover, to test the model performance in real-world scenarios, we set a prospective test dataset, containing 215 h of raw video-EEG data from 50 patients. The result shows that the vEpiNet achieves an area under the precision-recall curve (AUPRC) of 0.8623, surpassing nEpiNet's 0.8316. Incorporating video data raises precision from 70% (95% CI, 69.8%-70.2%) to 76.6% (95% CI, 74.9%-78.2%) at 80% sensitivity and reduces false positives by nearly a third, with vEpiNet processing one-hour video-EEG data in 5.7 min on average. Our findings indicate that video data can significantly improve the performance and precision of IED detection, especially in prospective real clinic testing. It suggests that vEpiNet is a clinically viable and effective tool for IED analysis in real-world applications.

An Independent Seizure-Onset Zone in Medial Temporal Lobe Found by 18 F-FDG PET Imaging Besides Epileptogenic Periventricular Nodular Heterotopia.

ABSTRACT: A 23-year-old man with drug-resistant epilepsy was admitted for presurgical evaluation. The epileptogenic zone could not be derived from seizure semiology and scalp electroencephalographic monitoring definitely. MRI showed periventricular nodular heterotopia in occipital horn of left lateral ventricle with high FDG uptake on interictal 18 F-FDG PET scan, whereas the hypometabolic zone in the left medial temporal lobe was also found on PET with no abnormality on MRI. Stereoelectroencephalographic implantation was performed to identify the seizure-onset zone. Two independent epileptogenic foci located in periventricular nodular heterotopia and left hippocampus were validated by stereoelectroencephalographic monitoring and the outcome of subsequent thermocoagulation.

Optimal Use of Perampanel in Elderly Asian Patients with Epilepsy: Expert Opinion.

Managing epilepsy in the elderly remains complicated largely due to factors related to aging. In this population, management practices are increasingly shifting towards the use of newer-generation anti-seizure medications (ASMs) as they are generally associated with better tolerability and safety profiles than older ones. Perampanel is a new ASM with broad-spectrum efficacy and a favorable safety profile. However, because of the lack of information and experience in its use, the prescription of perampanel has not been optimized in the elderly in the real-world setting in Asia. A group of epilepsy experts across the region convened at a series of virtual meetings to share their experience and discuss recommendations on perampanel use in elderly patients, including dose optimization, considerations with treatment initiation, and strategies to manage adverse events and maximize tolerability. This article summarizes key clinical and real-world evidence for perampanel in the elderly and consolidates the experts' opinions on optimizing perampanel use in elderly Asian patients with epilepsy, providing practical guidance for clinicians to address challenges related to treatment initiation and tolerance.

A polymorphism in CALHM1 is associated with temporal lobe epilepsy.

A recent study suggests that the P86L polymorphism (rs2986017) in the calcium homeostasis modulator 1 (CALHM1) gene interferes with calcium homeostasis and increases amyloid ß (Aß) levels. Moreover, in vitro and in vivo data show that both calcium homeostasis and high levels of Aß play an important role in the induction and maintenance of epileptic seizures in hippocampus, indicating CALHM1 might play a potential role in pathophysiological pathways involved in temporal lobe epilepsy (TLE). The aim of this study was to investigate the genetic contribution of CALHM1 to TLE. Five single-nucleotide polymorphisms (SNPs) of CALHM1 were selected and genotyped using polymerase chain reaction restriction fragment length polymorphism in 560 patients with TLE and 401 healthy controls. We found a positive association between rs11191692 and TLE, but a negative result between rs2986017 and TLE. The rs11191692-A allele frequency was found in 32.4% of the patients and in 26.2% of control subjects (OR=1.35, 95% CI=1.10-1.65, uncorrected P=0.003, corrected P=0.015). Furthermore, the positive association between rs11191692 and TLE independent of apolipoprotein E ε4 was supported by five SNPs haplotype analysis. The results of this study provide the first evidence that the SNP rs11191692 in CALHM1 confers highly increased susceptibility to TLE.

Can Spectral Power Be Used as a Candidate Seizure Marker of the Periodic Discharges Pattern?

Introduction: It remains controversial whether the periodic discharges (PDs) pattern is an ictal or interictal phenomenon. The aims of the study are to apply time-frequency and power spectrum analysis to study the PDs pattern and prediction of seizures. Methods: We retrospectively searched continuous electroencephalography (cEEG) recordings to identify patients exhibiting the PDs pattern. Artifact-free cEEG segments demonstrating the PDs pattern with stable baselines were chosen for time-frequency and power spectrum analysis. Results: In total, 72 patients (1.3%) exhibited the PDs pattern, with a mean age 36.0 ± 20.7 years (range, 8-76 years). The median spectral power of PDs with a length of 60 s was 70.94 µV2 and that of PDs with a length of 20 s was 195.80 µV2. During follow-up, patients with spectral power of PDs of length 60 and 20 s lower than 28.65 and 36.09 µV2, respectively, exhibited no seizure. For predicting seizures, when the spectral power for PDs of 60 and 20 s equaled to 17.26 and 21.40 µV2, respectively, the diagnostic sensitivity was 100% and specificity was 86%. The locations of maximal spectral power of PDs, crude seizure onset zone (SOZ) judged from scalp EEG, and the most prominent regions of hyper- or hypo-metabolism on FDG-PET were congruent. Conclusions: Spectral power might be a candidate seizure marker of the PDs pattern. High spectral power predicted a high risk of seizures, and low spectral power was associated with a low risk of seizures.

Multimodal Image Integration for Epilepsy Presurgical Evaluation: A Clinical Workflow.

Multimodal image integration (MMII) is a promising tool to help delineate the epileptogenic zone (EZ) in patients with medically intractable focal epilepsies undergoing presurgical evaluation. We report here the detailed methodology of MMII and an overview of the utility of MMII at the Cleveland Clinic Epilepsy Center from 2014 to 2018, exemplified by illustrative cases. The image integration was performed using the Curry platform (Compumedics Neuroscan™, Charlotte, NC, USA), including all available diagnostic modalities such as Magnetic resonance imaging (MRI), Positron Emission Tomography (PET), single-photon emission computed tomography (SPECT) and Magnetoencephalography (MEG), with additional capability of trajectory planning for intracranial EEG (ICEEG), particularly stereo-EEG (SEEG), as well as surgical resection planning. In the 5-year time span, 467 patients underwent MMII; of them, 98 patients (21%) had a history of prior neurosurgery and recurring seizures. Of the 467 patients, 425 patients underwent ICEEG implantation with further CT co-registration to identify the electrode locations. A total of 351 patients eventually underwent surgery after MMII, including 197 patients (56%) with non-lesional MRI and 223 patients (64%) with extra-temporal lobe epilepsy. Among 269 patients with 1-year post-operative follow up, 134 patients (50%) had remained completely seizure-free. The most common histopathological finding is focal cortical dysplasia. Our study illustrates the usefulness of MMII to enhance SEEG electrode trajectory planning, assist non-invasive/invasive data interpretation, plan resection strategy, and re-evaluate surgical failures. Information presented by MMII is essential to the understanding of the anatomo-functional-electro-clinical correlations in individual cases, which leads to the ultimate success of presurgical evaluation of patients with medically intractable focal epilepsies.

Electroencephalogram and Clinical Characteristics and Correlations in Patients With Anti-N-Methyl-d-Aspartate Receptor Encephalitis.

Objective. Electroencephalogram (EEG) is a sensitive method for evaluation of anti-N-methyl-d-aspartate receptor (anti-NMDAR) encephalitis. The aim was to investigate the EEG and clinical features and correlations in patients with anti-NMDAR encephalitis. Methods. Anti-NMDAR encephalitis patients (n = 98) with at least 1 EEG recording in our hospital were recruited between January 2012 and October 2017. We reviewed and analyzed the EEG and clinical data. Results. In our cohorts, 79 patients underwent EEG in the disease acute stage, and 39 in the recovery stage. Of the 79 patients, 70 (88.6%) EEG recordings in acute period were abnormal. Symptoms, including consciousness, movement disorder, coma, were correlated to the degree of EEG abnormalities (P < .05). The patients with more severe EEG abnormalities also had longer hospitalized and intensive care unit stay time (P < .05). We found that the EEG pattern of abnormal occipital alpha rhythm had a correlation with the clinical severity, and the Spearman coefficient was 0.448 (P = .000). Neither delta activities distribution nor prevalence showed correlations with clinical severity in acute stage. However, delta activities significantly decreased in the disease recovery stage. The other findings of EEG records were extreme delta brush (7cases, 8.9%), excess delta activities (diffuse slowing 30 cases, 38.0%), and epileptiform discharge (10 cases, 14.3%). Conclusion. This is the largest study of EEG recording in patients with anti-NMDAR encephalitis patients in China. EEG abnormalities, particularly occipital alpha rhythm, are correlated with clinical severity. EEG is useful for diagnosis and monitoring of treatment response in conjunction with clinical improvement.

Sleep Disorders in Leucine-Rich Glioma-Inactivated Protein 1 and Contactin Protein-Like 2 Antibody-Associated Diseases.

Objective: Sleep disorders are common in voltage-gated potassium channel complex antibody (VGKC-Ab) diseases. The aim was to investigate the sleep disturbances and polysomnography (PSG) characteristics in patients with VGKC-Ab-associated diseases. Methods: Twenty-seven patients with leucine-rich glioma-inactivated protein 1 antibody (LGI1-Ab) encephalitis, seven patients with contactin protein-like 2 antibody (Caspr2-Ab)-associated diseases, and 14 healthy controls with at least one PSG or actigraphy recording were recruited at Peking Union Medical College Hospital from January 2014 to July 2019. Results: Sleep disorders including insomnia, hypersomnia, rapid eye movement (REM) sleep behavior disorder (RBD), periodic limb movements in sleep (PLMS), agrypnia excitata, and obstructive sleep apnea syndrome were observed. Twenty-one PSG recordings from patients with LGI1-Ab encephalitis demonstrated a decrease in total sleep time (TST) (median 365.5, range 184.5-495.5 min), sleep efficiency (70.0%, 47-92%), N3 sleep (9.7%, 0-32.9%), and REM sleep (9.9%, 0.4-27.9%). Of five patients with Caspr2-Ab-associated diseases, TST was found to be 329.5 (167.0-377.5 min), and sleep efficiency was found to be 61.7% (34.6-71.7%). The percentage for N3 and REM sleep was found to be 15.0% (0-34.6%) and 12.7% (0-22.2%), respectively. Both RBD and PLMS were observed more frequently in patients with LGI1-Ab encephalitis. We identified status dissociatus (SD) in five (23.8%) patients with LGI1-Ab encephalitis and two (40%) patients with Caspr2-Ab diseases. The former is more likely to have simple limb movements rather than complex movements, which mimic the contents of their dreams. Continuous insomnia was more common in patients with Caspr2-Ab diseases than patients with LGI1-Ab encephalitis. Patients reported clinical and PSG improvements following immunotherapy. Conclusion: Sleep disorders in patients with VGKC-Ab-associated diseases include decreased TST and poor sleep efficiency. Our studies provide evidence of SD in patients with LGI1-Ab encephalitis.

Corrigendum: Sleep Disorders in Leucine-Rich Glioma-Inactivated Protein 1 and Contactin Protein-Like 2 Antibody-Associated Diseases.

[This corrects the article DOI: 10.3389/fneur.2020.00696.].

Clinical and genetic characteristics of type I sialidosis patients in mainland China.

OBJECTIVE: Type I sialidosis (ST-1) is a rare autosomal recessive inherited disorder. To date, there has been no study on ST-1 patients in mainland China. METHODS: We reported in detail the cases of five Chinese ST-1 patients from two centers, and summarized all worldwide cases. Then, we compared the differences between Chinese and foreign patients. RESULTS: A total of 77 genetically confirmed ST-1 patients were identified: 12 from mainland China, 23 from Taiwan, 10 from other Asian regions, and 32 from European and American regions. The mean age of onset was 16.0 ± 6.7 years; the most common symptoms were myoclonus seizures (96.0%), followed by ataxia (94.3%), and blurred vision (67.2%). Compared to other groups, the onset age of patients from mainland China was much younger (10.8 ± 2.7 years). The incidence of visual impairment was lower in patients from other Asian regions than in patients from mainland China and Taiwan (28.6% vs. 81.8%-100%). Cherry-red spots were less frequent in the Taiwanese patients than in patients from other regions (27.3% vs. 55.2%-90.0%). Furthermore, 48 different mutation types were identified. Chinese mainland and Taiwanese patients were more likely to carry the c.544A > G mutation (75% and 100%, respectively) than the patients from other regions (only 0%-10.0%). Approximately 50% of Chinese mainland patients carried the c.239C > T mutation, a much higher proportion than that found in the other populations. In addition, although the brain MRI of most patients was normal, 18 F-FDG-PET analysis could reveal cerebellar and occipital lobe hypometabolism. INTERPRETATION: ST-1 patients in different regions are likely to have different mutation types; environmental factors may influence clinical manifestations. Larger studies enrolling more patients are required.

Spontaneous periictal leaving behavior: a potential lateralizing sign in mesial temporal lobe epilepsy.

PURPOSE: Seizure-related spontaneous leaving behavior (LB) is an uncommonly reported phenomenon. The aim of this study was to determine its frequency, clinical significance, and especially its lateralizing value. METHODS: We analyzed retrospectively the spontaneous periictal LB occurring in complex partial seizures (CPS) of 138 patients with medically refractory mesial temporal lobe epilepsy (MTLE) with excellent postoperative seizure outcome and pathologic finding of hippocampal sclerosis. The relation of LB occurring in different phases of CPS to the side of resection was investigated. RESULTS: The overall frequency of periictal LB was 8.3% of 517 CPS and 25.2% of 123 patients. Among the 12 patients with ictal LB, 9 patients had epileptogenic focus ipsilateral to language dominant side, whereas the remaining 3 had seizure onset in the nondominant side. Conversely, 8 of 11 patients with postictal LB had foci in the nondominant side, and only three patients' seizures originated in the dominant side. Therefore, it was more likely for patients with left MTLE to show ictal LB and for those with right foci to display postictal LB (p = 0.03). CONCLUSIONS: LB may represent a potential lateralizing sign. When LB occurs ictally, it may indicate seizure onset in the dominant temporal lobe, and LB occurring postictally indicates nondominant side seizure onset in patients with MTLE.

Reliability and validity of a Chinese version of the Impact of Pediatric Epilepsy Scale.

The Impact of Pediatric Epilepsy Scale (IPES) is an accurate, acceptable, and quick tool that assesses the impact of epilepsy on the child with epilepsy and his or her family. The aim of this study was to investigate its applicability in China. After multistage translation and cultural adaptation, the final Chinese version was administered to 110 parents of children with epilepsy to evaluate its validity, reliability, and sensitivity. All items contributed significantly to the summary measure. With respect to validity, all items were substantially correlated with the criterion questionnaire subscales, and principal component analysis indicated that three factors accounted for 72% of the variance of the scale. The internal consistency coefficients of the first and second tests for the total were 0.916 and 0.930, respectively, and test-retest reliability ranged from 0.891 to 0.992. Additionally, the IPES can detect differences in health-related quality of life (HRQOL) between subjects according to epilepsy severity. In conclusion, this study indicates that the Chinese IPES has good validity, reliability, and sensitivity, and is an epilepsy-specific HRQOL questionnaire that is a brief, accurate, and valid assessment of the influence of epilepsy on the child and family.

Type IIB focal cortical dysplasia with balloon cells in medial temporal lobe epilepsy: Clinical, neuroimaging, and histopathological findings.

PURPOSE: Type IIB focal cortical dysplasia (FCD) is an important cause of drug-resistant epilepsy. However, balloon cells located in the medial temporal lobe have been seldom reported. We aimed to discuss the clinical and pathological features of Type IIB FCD with balloon cells in the medial temporal lobe (MTLE-FCDIIB) and the differential diagnosis with other types of mesial temporal lobe epilepsy. METHODS: Three MTLE-FCDIIB cases were enrolled from Peking Union Medical College Hospital. Clinical and neuroimaging data were analyzed and histology features observed on hematoxylin-eosin (H&E) staining and immunochemical staining, including vimentin, nestin, S-100, CD34, neuronal nuclei antigen (Neun), glial fibrillary acidic protein (GFAP), neurofilament heavy chain (SMI32), were discussed. RESULTS: All cases involved drug-resistant epilepsy patients with childhood onset. The semiology of the epileptic seizure was a highly frequent partial seizure with or without generalized tonic-clonic seizures. Magnetic resonance imaging showed hyper-intensity in the medial temporal lobe without atrophy, different from mesial temporal sclerosis. Histological examination indicated the presence of balloon cells in the white matter of the para-hippocampal gyrus, subiculum, and cornu ammonis with cortical disorganization, and SMI32 positive dysmorphic neurons in the gray matter. Balloon cells were immunohistochemically stained with vimentin and nestin. Granular cell dispersion and pyramidal cell loss were not found. CONCLUSIONS: The presence of balloon cells in the medial temporal lobe is observed in a rare subgroup of FCD, named MTLE-FCDIIB. It has distinct clinical manifestations, neuroimaging features, pathological changes, and prognosis, which should be differentiated from mesial temporal lobe sclerosis and mesial temporal lobe tumors. Our findings enable more accurate diagnosis of mesial temporal lobe epilepsy.

GJB1 Mutation-A Disease Spectrum: Report of Case Series.

Introduction: Patients with GJB1 mutations manifested as pure central nervous system (CNS) involvement without peripheral neuropathy have not been adequately reported. To expand the disease spectrum of GJB1 mutations, we report a case series. Methods: Eleven patients from 9 families with GJB1 mutations were reviewed. The clinical manifestations, electrophysiological studies, and gene tests were summarized. Results: Nine patients had peripheral neuropathy, one patient had both peripheral neuropathy and mild cognitive impairment, and one patient had recurrent episodic limbs weakness and aphasia with normal electrophysiological study, indicating CNS involvement only. Discussion: GJB1 mutations form a clinical spectrum, including most patients with peripheral nerve involvement, those with both peripheral neuropathy and CNS involvement, and patients with CNS involvement only.