Cortical Dysplasia-Focal Epilepsy Syndrome

皮质发育不良局灶性癫痫综合征

更新于：2025-05-07

基本信息

别名

CDFE (cortical dysplasia focal epilepsy) syndrome、CDFE SYNDROME、CDFE Syndrome

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简介

An autosomal recessive condition caused by mutation(s) in the CNTNAP2 gene, encoding contactin-associated protein-like 2. It is characterized by normal development until the onset of intractable focal seizures at age 1-9. After the onset of seizures, language regression, intellectual disability, hyperactivity, and impulsive behaviors begin to occur. The majority of children eventually fulfill the criteria for autism spectrum disorder.

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100 项与皮质发育不良局灶性癫痫综合征相关的临床结果

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100 项与皮质发育不良局灶性癫痫综合征相关的转化医学

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0 项与皮质发育不良局灶性癫痫综合征相关的专利（医药）

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项与皮质发育不良局灶性癫痫综合征相关的文献（医药）

2025-02-01·Seizure: European Journal of Epilepsy

Glymphatic system dysfunction in epilepsy related to focal cortical dysplasia and its relationship with antiseizure medication response

Article

作者: Xu, Jiahui ; Ye, Linqi ; Hu, Jing ; Cheng, Hui ; Li, Hong ; Jin, Bo ; Chen, Cong ; Wang, Shan ; Zhang, Lisan ; Wang, Shuang ; Wang, Jin ; Aung, Thandar

PURPOSEGlymphatic function has not been explored in patients with focal cortical dysplasia (FCD)-related epilepsy. This study aimed to investigate the glymphatic system's involvement in these patients and to evaluate its correlation with response patterns to different antiseizure medications (ASMs) using diffusion tensor imaging along the perivascular space (DTI-ALPS).METHODSFifty-two patients with FCD-related epilepsy (10 with drug-responsive epilepsy and 42 with drug-resistant epilepsy) and 24 healthy controls (HC) were included. Bilateral DTI-ALPS index were calculated and compared among drug-responsive epilepsy, drug-resistant epilepsy, and HC groups. Additionally, we analyzed correlations between the DTI-ALPS index and clinical characteristics.RESULTSCompared to HC, patients with FCD-related epilepsy showed significantly lower DTI-ALPS index in the bilateral hemispheres (p < 0.001). Notably, a significant decrease in the DTI-ALPS index was noted in the hemisphere ipsilateral to the epileptogenic foci, compared to the contralateral hemisphere (p < 0.001). Further analysis revealed that, in patients with drug-resistant epilepsy, the ipsilateral DTI-ALPS index was significantly lower than the contralateral DTI-ALPS index (p < 0.001), whereas patients with drug-responsive epilepsy did not show a significant difference between ipsilateral and contralateral DTI-ALPS index. No significant correlations were found between the DTI-ALPS index and clinical characteristics such as age and duration of epilepsy.CONCLUSIONOur findings suggest a correlation between glymphatic system dysfunction and patients with FCD-related epilepsy, particularly in drug-resistant patients.

2024-02-01·Epilepsia Open

Bilateral temporal lobe dysplasia and seizure onset associated with biallelic CNTNAP2 variants

Article

作者: Panza, Norman ; Bianchini, Claudia ; Cetica, Valentina ; Barba, Carmen ; Parrini, Elena ; Ferrari, Anna Rita ; Parmeggiani, Lucio ; Mei, Davide ; Balestrini, Simona ; Guerrini, Renzo

AbstractBiallelic CNTNAP2 variants have been associated with Pitt‐Hopkins‐like syndrome. We describe six novel and one previously reported patients from six independent families and review the literature including 64 patients carrying biallelic CNTNAP2 variants. Initial reports highlighted intractable focal seizures and the failure of epilepsy surgery in children, but subsequent reports did not expand on this aspect. In all our patients (n = 7), brain MRI showed bilateral temporal gray/white matter blurring with white matter high signal intensity, more obvious on the T2‐FLAIR sequences, consistent with bilateral temporal lobe dysplasia. All patients had focal seizures with temporal lobe onset and semiology, which were recorded on EEG in five, showing bilateral independent temporal onset in four. Epilepsy was responsive to anti‐seizure medications in two patients (2/7, 28.5%), and pharmaco‐resistant in five (5/7, 71.5%). Splice‐site variants identified in five patients (5/7, 71.5%) were the most common mutational finding. Our observation expands the phenotypic and genetic spectrum of biallelic CNTNAP2 alterations focusing on the neuroimaging features and provides evidence for an elective bilateral anatomoelectroclinical involvement of the temporal lobes in the associated epilepsy, with relevant implications on clinical management.

2023-12-01·Epilepsia

A scoping review of the functional magnetic resonance imaging‐based functional connectivity of focal cortical dysplasia‐related epilepsy

Article

作者: Cohen, Nathan T. ; Gaillard, William D. ; Xie, Hua ; Gholipour, Taha

AbstractFocal 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.

项与皮质发育不良局灶性癫痫综合征相关的新闻（医药）

2025-03-19

·drugs

Graph Neural Network Can Detect Epileptogenic Focal Cortical Dysplasia

WEDNESDAY, March 19, 2025 -- A graph neural network using data from the Multicenter Epilepsy Lesion Detection (MELD) Project (MELD Graph) can detect epileptogenic focal cortical dysplasia (FCD) on magnetic resonance imaging (MRI) scans, with improved positive predictive value (PPV) compared with an existing algorithm, according to a study published online Feb. 24 in JAMA Neurology . Mathilde Ripart, Ph.D., from the UCL Great Ormond Street Institute of Child Health in London, and colleagues examined the efficacy and interpretability of graph neural networks in automatically detecting FCD lesions on MRI scans in a multicenter diagnostic study. Retrospective MRI data were obtained from 23 epilepsy centers worldwide between 2018 and 2022. Data from 20 centers were split into training and testing cohorts, and data from three centers were used for site-independent testing. MELD Graph was trained to identify FCD on surface-based features; performance was compared to that of an existing algorithm. Overall, 34 surface-based MRI features and manual lesion masks were obtained from 703 patients with FCD-related epilepsy and 482 controls. The researchers found that the MELD Graph had a sensitivity of 81.6 and 63.7 percent in histopathologically confirmed patients who were seizure-free one year after surgery and in MRI-negative patients with FCD, respectively, in the test dataset. The PPV was 67 percent for 260 patients in the test dataset compared with 39 percent using an existing baseline algorithm. In the independent test cohort, the corresponding PPVs were 76 and 46 percent. "With improved performance over existing methods, interpretable predictions, model confidence scores, and individual patient reports, MELD Graph can support the integration of lesion detection tools into the radiological workflow," the authors write. Several authors disclosed ties to the biopharmaceutical industry.

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