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UNASSIGNED: Magnetic resonance-guided laser interstitial thermal therapy (MRgLiTT) and stereoelectroencephalography-guided radiofrequency thermocoagulation (SEEG-RFTC) are two effective, minimally invasive treatments for epilepsy with focal cortical dysplasia (FCD). The purpose of this study is to conduct a meta-analysis to evaluate and compare the efficacy and safety of these two therapies in epilepsy patients with FCD.
UNASSIGNED: We searched PubMed, Embase, Cochrane, and other databases for articles published before March 2023. The primary objective was to compare the effectiveness and complications of MRgLiTT and SEEG-RFTC in epilepsy patients with FCD. The second objective was to determine which method provides a better prognosis for specific subgroup patients.
UNASSIGNED: According to the inclusion and exclusion criteria, 18 studies were included, comprising 270 FCD patients including 37 patients from 6 MRgLiTT studies and 233 from 12 SEEG-RFTC studies. There were no significant differences between MRgLiTT and SEEG-RFTC groups in the seizure-freedom rate (59%, 95% CI 44-74%; 52%, 95% CI 47-57%, P = 0.86) and the rate of ≥50% seizure-reduction of FCD (90%, 95% CI 80-100%; 90%, 95% CI 86-94%, P = 0.42). Both methods had low complication rates (17.1%, 28/159) and long-term complication (2.5%, 4/159) rate, with no significant difference between them (P = 0.17).
UNASSIGNED: Both MRgLiTT and SEEG-RFTC are safe and minimally invasive treatments for patients with FCD. They have comparable performance in terms of postoperative seizure-freedom rates in patients with FCD, and both can be used as treatment options for patients with FCD. Our study found that SEEG-RFTC had a better therapeutic effect in the FCD2b subgroup.

Focal cortical dysplasia (FCD) is the most frequent etiology of operable pharmacoresistant epilepsy in children. There is burgeoning evidence that FCD-related epilepsy is a disorder that involves distributed brain networks. Functional magnetic resonance imaging (fMRI) is a tool that allows one to infer neuronal activity and to noninvasively map whole-brain functional networks. Despite its relatively widespread availability at most epilepsy centers, the clinical application of fMRI remains mostly task-based in epilepsy. Another approach is to map and characterize cortical functional networks of individuals using resting state fMRI (rsfMRI). The focus of this scoping review is to summarize the evidence to date of investigations of the network basis of FCD-related epilepsy, and to highlight numerous potential future applications of rsfMRI in the exploration of diagnostic and therapeutic strategies for FCD-related epilepsy. There are numerous studies demonstrating a global disruption of cortical functional networks in FCD-related epilepsy. The underlying pathological subtypes of FCD influence overall functional network patterns. There is evidence that cortical functional network mapping may help to predict postsurgical seizure outcomes, highlighting the translational potential of these findings. Additionally, several studies emphasize the important effect of FCD interaction with cortical networks and the expression of epilepsy and its comorbidities.

Focal cortical dysplasia (FCD) is a congenital brain malformation that is closely associated with epilepsy. Early and accurate diagnosis is essential for effectively treating and managing FCD. Magnetic resonance imaging (MRI)-one of the most commonly used non-invasive neuroimaging methods for evaluating the structure of the brain-is often implemented along with automatic methods to diagnose FCD. In this review, we define three categories for FCD identification based on MRI: visual, semi-automatic, and fully automatic methods. By conducting a systematic review following the PRISMA statement, we identified 65 relevant papers that have contributed to our understanding of automatic FCD identification techniques. The results of this review present a comprehensive overview of the current state-of-the-art in the field of automatic FCD identification and highlight the progress made and challenges ahead in developing reliable, efficient methods for automatic FCD diagnosis using MRI images. Future developments in this area will most likely lead to the integration of these automatic identification tools into medical image-viewing software, providing neurologists and radiologists with enhanced diagnostic capabilities. Moreover, new MRI sequences and higher-field-strength scanners will offer improved resolution and anatomical detail for precise FCD characterization. This review summarizes the current state of automatic FCD identification, thereby contributing to a deeper understanding and the advancement of FCD diagnosis and management.

OBJECTIVE: NPRL3-related epilepsy (NRE) is an emerging condition set within the wide GATOR-1 spectrum with a particularly heterogeneous and elusive phenotypic expression. Here, we delineated the genotype-phenotype spectrum of NRE, reporting an illustrative familial case and reviewing pertinent literature.
METHODS: Through exome sequencing (ES), we investigated a 12-year-old girl with recurrent focal motor seizures during sleep, suggestive of sleep-related hypermotor epilepsy (SHE), and a family history of epilepsy in siblings. Variant segregation analysis was performed by Sanger sequencing. All previously published NRE patients were thoroughly reviewed and their electroclinical features were analyzed and compared with the reported subjects.
RESULTS: In the proband, ES detected the novel NPRL3 frameshift variant (NM_001077350.3): c.151_152del (p.Thr51Glyfs*5). This variant is predicted to cause a loss of function and segregated in one affected brother. The review of 76 patients from 18 publications revealed the predominance of focal-onset seizures (67/74-90%), with mainly frontal and frontotemporal (32/67-47.7%), unspecified (19/67-28%), or temporal (9/67-13%) onset. Epileptic syndromes included familial focal epilepsy with variable foci (FFEVF) (29/74-39%) and SHE (11/74-14.9%). Fifteen patients out of 60 (25%) underwent epilepsy surgery, 11 of whom achieved complete seizure remission (11/15-73%). Focal cortical dysplasia (FCD) type 2A was the most frequent histopathological finding.
CONCLUSIONS: We reported an illustrative NPRL3-related epilepsy (NRE) family with incomplete penetrance. This condition consists of a heterogeneous spectrum of clinical and neuroradiological features. Focal-onset motor seizures are predominant, and almost half of the cases fulfill the criteria for SHE or FFEVF. MRI-negative cases are prevalent, but the association with malformations of cortical developments (MCDs) is significant, especially FCD type 2a. The beneficial impact of epilepsy surgery in patients with MCD-related epilepsy further supports the inclusion of brain MRI in the workup of NRE patients.

Focal cortical dysplasia (FCD) represents a heterogeneous group of morphological changes in the brain tissue that can predispose the development of pharmacoresistant epilepsy (recurring, unprovoked seizures which cannot be managed with medications). This group of neurological disorders affects not only the cerebral cortex but also the subjacent white matter. This work reviews the literature describing the morphological substrate of pharmacoresistant epilepsy. All illustrations presented in this study are obtained from brain biopsies from refractory epilepsy patients investigated by the authors. Regarding classification, there are three main FCD types, all of which involve cortical dyslamination. The 2022 revision of the International League Against Epilepsy (ILAE) FCD classification includes new histologically defined pathological entities: mild malformation of cortical development (mMCD), mild malformation of cortical development with oligodendroglial hyperplasia in frontal lobe epilepsy (MOGHE), and \"no FCD on histopathology\". Although the pathomorphological characteristics of the various forms of focal cortical dysplasias are well known, their aetiologic and pathogenetic features remain elusive. The identification of genetic variants in FCD opens an avenue for novel treatment strategies, which are of particular utility in cases where total resection of the epileptogenic area is impossible.

Carefully selected patients with lesional epilepsy, including focal cortical dysplasia (FCD) and long-term epilepsy-associated tumours (LEAT), can benefit from epilepsy surgery. The influence of disease course and subsequent epilepsy surgery on quality of life (QoL) and intelligence quotient (IQ) is not well understood.
A systematic review was conducted in accordance with the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. Studies reporting QoL or IQ measures in paediatric patients with FCD and LEAT at epilepsy onset, at establishment of drug resistance (pre-operative/non-surgically managed) and post-operatively were included. To evaluate the \"effect size\" and clinical significance of surgery, a meta-analysis of the data was conducted using fixed effects models for weighted mean differences, 95% confidence intervals and sensitivity analyses.
Nineteen eligible studies (911 patients) were included, 17 assessing IQ and 2 evaluating QoL. Twelve studies reported preoperative and postoperative IQ measures and five reported IQ in non-surgically managed cohorts after drug resistance was established; no papers reported IQ at epilepsy onset. No significant IQ/DQ changes were detected after surgery (pre-operative pooled mean 69.32; post-operative pooled mean 69.98; p = 0.32). Age at epilepsy surgery, type of surgery and epilepsy-related pathology did not influence the post-operative IQ. QoL was reported in 2 studies with the pooled mean estimates for pre- and post-operative QoL being 42.52 and 55.50, respectively.
The present study demonstrated no statistical change in IQ and QoL following surgery in paediatric patients with FCD and LEAT. There was no data on IQ and QoL at disease onset. Attempting to understand the impact of epilepsy, ongoing seizures and surgery on IQ and QoL will facilitate planning of future studies that aim to optimise quality of life and developmental outcomes in these children. Studies assessing children at epilepsy onset with longitudinal follow-up are required to optimise the timing of epilepsy surgery on QoL and IQ.

Malformations of cortical development (MCDs) are common causes of drug-resistant epilepsy. The mechanisms underlying the associated epileptogenesis and ictogenesis remain poorly elucidated. EEG can help in understanding these mechanisms. We systematically reviewed studies reporting scalp or intracranial EEG features of MCDs to characterise interictal and seizure-onset EEG patterns across different MCD types.
We conducted a systematic review in accordance with PRISMA guidelines. MEDLINE, PubMed, and Cochrane databases were searched for studies describing interictal and seizure-onset EEG patterns in MCD patients. A classification framework was implemented to group EEG features into 20 predefined patterns, comprising nine interictal (five, scalp EEG; four, intracranial EEG) and 11 seizure-onset (five, scalp EEG; six, intracranial EEG) patterns. Logistic regression was used to estimate the odds ratios (OR) of each seizure-onset pattern being associated with specific MCD types.
Our search yielded 1682 studies, of which 27 comprising 936 MCD patients were included. Of the nine interictal EEG patterns, five (three, scalp EEG; two, intracranial EEG) were detected in ≥2 MCD types, while four (rhythmic epileptiform discharges type 1 and type 2 on scalp EEG; repetitive bursting spikes and sporadic spikes on intracranial EEG) were seen only in focal cortical dysplasia (FCD). Of the 11 seizure-onset patterns, eight (three, scalp EEG; five, intracranial EEG) were found in ≥2 MCD types, whereas three were observed only in FCD (suppression on scalp EEG; delta brush on intracranial EEG) or tuberous sclerosis complex (TSC; focal fast wave on scalp EEG). Among scalp EEG seizure-onset patterns, paroxysmal fast activity (OR = 0.13; 95% CI: 0.03-0.53; p = 0.024) and repetitive epileptiform discharges (OR = 0.18; 95% CI: 0.05-0.61; p = 0.036) were less likely to occur in TSC than FCD. Among intracranial EEG seizure-onset patterns, low-voltage fast activity was more likely to be detected in heterotopia (OR = 19.3; 95% CI: 6.22-60.1; p < 0.001), polymicrogyria (OR = 6.70; 95% CI: 2.25-20.0; p = 0.004) and TSC (OR = 4.27; 95% CI: 1.88-9.70; p = 0.005) than FCD.
Different MCD types can share similar interictal or seizure-onset EEG patterns, reflecting common underlying biological mechanisms. However, selected EEG patterns appear to point to distinct MCD types, suggesting certain differences in their neuronal networks.

BACKGROUND: Focal epilepsy can have a varied etiology, including malformations of cortical development (MCD), that can often be detected by Magnetic Resonance Imaging (MRI).Here we show a distinct characteristic of two forms of MCDs on MRI, with two tight dipole clusters in her MEG magnetoencephalography study, in a patient with electroencephalography (EEG) features of generalized epilepsy.
METHODS: This is a case presentation of a 20 years old female with epilepsy, found to have upon EMU admission two pathologies (FCD, heterotropia) over the right side near the collateral sulcus, and two tight clusters of dipoles over the right parietal and left temporo-parietal region, with generalized inter ictal discharges in her EEG. FCD is a common etiology of medically intractable seizures and usually in EEG it will show either: pseudo-periodic spikes or rhythmic spikes, poly-spike or repetitive electrographic seizures or a brief discharge of fast rhythmic activity, atypical presentation with generalized epileptiform discharges were rarely reported.
CONCLUSIONS: The presence of MCD does not preclude a patient from having other types of epilepsy. Generalized epilepsy and focal related epilepsy have a distinct pathophysiology.

BACKGROUND: Intracranial dermoid cyst is a rare, benign, nonneoplastic tumor-like lesion that could cause seizures, headache, and hydrocephalus. We hypothesized that the temporal lobe dermoid cyst in combination with other factors were causing the epileptic seizure.
METHODS: We encountered a 17-year-old girl with anti-seizure medication-resistant epilepsy secondary to dermoid cyst located in the temporal region depicted on magnetic resonance imaging (MRI). She showed neither symptoms of meningitis nor rupture of the cyst according to serial MRI. We hypothesized that temporal lobe dermoid cyst in combination with other factors, such as focal cortical dysplasia (FCD), etc., was causing epileptic seizures in this case. She underwent dermoid cyst removal surgery with resection of the tip of the antero-inferior temporal lobe.
RESULTS: Histopathological study showed multiple small intramedullary dermoid cysts in the left antero-inferior temporal lobe in addition to MRI lesions and FCD.
CONCLUSIONS: A patient with medically intractable epilepsy secondary to left temporal lobe dermoid cyst showed multiple intramedullary dermoid cysts and focal cortical dysplasia that might have interacted to create epileptogenicity. To our knowledge, this is the first case report of dermoid cyst concomitant with FCD.