scholarly journals Cortical Dysplasia-Focal Epilepsy Syndrome

2020 ◽  
Author(s):  
2015 ◽  
Vol 25 (06) ◽  
pp. 1550027 ◽  
Author(s):  
Cheng Luo ◽  
Yaodan Zhang ◽  
Weifang Cao ◽  
Yue Huang ◽  
Fei Yang ◽  
...  

Benign epilepsy with centrotemporal spikes (BECT) is the most common form of childhood idiopathic focal epilepsy syndrome. We investigated quantitative evidence regarding brain morphology and functional connectivity features to provide insight into the neuroanatomical foundation of this disorder, using high resolution T1-weighted magnetic resonance imaging (MRI) and resting state functional MRI in 21 patients with BECT and in 20 healthy children. The functional connectivity analysis, seeded at the regions with altered gray-matter (GM) volume in voxel-based morphometry (VBM) analysis, was further performed. Then, the observed structural and functional alteration were investigated for their association with the clinical and behavior manifestations. The increased GM volume in the striatum and fronto-temporo-parietal cortex (striato-cortical circuit) was observed in BECT. The decreased connections were found among the motor network and frontostriatal loop, and between the default mode network (DMN) and language regions. Additionally, the GM of striatum was negatively correlated with age at epilepsy onset. The current observations may contribute to the understanding of the altered structural and functional feature of striato-cortical circuit in patients with BECT. The findings also implied alterations of the motor network and DMN, which were associated with the epileptic activity in patients with BECT. This further suggested that the onset of BECT might have enduring structural and functional effects on brain maturation.


2019 ◽  
Vol 10 ◽  
Author(s):  
Shinji Itamura ◽  
Tohru Okanishi ◽  
Yoshifumi Arai ◽  
Mitsuyo Nishimura ◽  
Shimpei Baba ◽  
...  

2020 ◽  
Vol 51 (6) ◽  
pp. 390-398 ◽  
Author(s):  
Sudhakar Karunakaran ◽  
Ramshekhar N. Menon ◽  
Sruthi S. Nair ◽  
S. Santhakumar ◽  
Muralidharan Nair ◽  
...  

The clinical phenotype of autism spectrum disorder and epilepsy (ASD-E) is a common neurological presentation in various genetic disorders, irrespective of the underlying pathophysiological mechanisms. Here we describe the demographic and clinical profiles, coexistent neurological conditions, type of seizures, epilepsy syndrome, and EEG findings in 11 patients with ASD-E phenotype with proven genetic etiology. The commonest genetic abnormality noted was CDKL5 mutation (3), MECP2 mutation (2), and 1p36 deletion (2). The median age of onset of clinical seizures was 6 months (range, 10 days to 11 years). The most common seizure type was focal onset seizures with impaired awareness, observed in 7 (63.6%) patients followed by epileptic spasms in 4 (30.8%), generalized tonic-clonic and atonic seizures in 3 (27.3%) patients each and tonic seizures in 2 (18.2%) patients and myoclonic seizures in 1 (9.1%) patient. Focal and multifocal interictal epileptiform abnormalities were seen in 6 (54.6%) and 5 (45.5%) patients, respectively. Epileptic encephalopathy and focal epilepsy were seen in 7 (63.6%) and 4 (36.4%) patients, respectively. The diagnostic yield of genetic testing was 44% (11 of 25 patients) and when variants of unknown significance and metabolic defects were included, the yield increased to 60% (15 of 25 patients). We conclude that in patients with ASD-E phenotype with an underlying genetic basis, the clinical seizure type, epilepsy syndrome, and EEG patterns are variable. Next-generation exome sequencing and chromosomal microarray need to be considered in clinical practice as part of evaluation of children with ASD-E phenotype.


2011 ◽  
Vol 114 (4) ◽  
pp. 1195-1202 ◽  
Author(s):  
Jorge A. González-Martínez ◽  
Zhong Ying ◽  
Richard Prayson ◽  
William Bingaman ◽  
Imad Najm

Object Changes in the expression of glutamate transporters (GLTs) may play a role in the expression of epileptogenicity. Previous studies have shown an increased number of neuronal GLTs in human dysplastic neurons. The expression of glial and neuronal GLTs and glutamine synthetase (GS) in balloon cells (BCs) and BC-containing cortical dysplasia has not been studied. Methods The authors analyzed neocortical samples that were resected in 5 patients who had cortical dysplasia–induced medically intractable focal epilepsy and who underwent extraoperative prolonged electrocorticographic (ECoG) recordings. The expressions of glial (GLT1/EAAT2) and neuronal (EAAT3, EAAC1) GLTs and GS proteins were immunohistochemically studied in all 5 resected samples. The authors also assessed in situ colocalization of GLTs and GS with neuronal and glial markers. Results Balloon cell–containing cortical dysplasia lesions did not exhibit ictal patterns on prolonged extraoperative ECoG recordings. There was a differential expression of glial and neuronal GLTs in BCs and dysplastic neurons: the majority of BCs highly expressed glial but not neuronal GLTs. Dysplastic neurons showed increased immunohistochemical staining with neuronal EAAT3 but not with EAAT2/GLT1. Moreover, only glial fibrillary acidic protein–positive BCs also expressed GS. Conclusions There is a differential GLT expression in dysplastic and balloon cells. The presence of glial GLTs and GS in balloon cell cortical dysplasia suggests a possible antiepileptic role for BCs and is consistent with the reported increased epileptogenicity in GLT1-deficient animals.


Author(s):  
Samden D. Lhatoo ◽  
Nuria Lacuey ◽  
Philippe Ryvlin

The growing requirement for invasive EEG in presurgical evaluation of intractable focal epilepsy has been driven largely by the increasing complexity of epilepsy surgery cases. Extratemporal surgeries now exceed anterior temporal lobe resections for mesial temporal sclerosis, and the proportion of patients undergoing invasive EEGs has significantly increased. Half of all patients undergoing stereotactic EEG (SEEG) evaluations are MRI-negative (usually with focal cortical dysplasia type 1 or 2) and a third are reoperations for failed resective or palliative surgery. Certain principles guide the decision to use invasive EEG and the choice of invasive EEG technique. SEEG has distinct advantages, as do subdural grid evaluations and intraoperative corticography. The consequences of loose hypotheses in the decision to invasively evaluate a patient, and of inappropriate choice of technique, include poor seizure outcomes after surgery, morbidity, and mortality. This chapter discusses the guiding principles for invasive studies of the human epileptic brain.


Author(s):  
Laura Marsh

As many as 50% of patients with epilepsy have psychiatric syndromes, with mood, anxiety, and psychotic disturbances being the most common. Recognition and treatment of neuropsychiatric disturbances in individuals with epilepsy is influenced by the complexity of the epilepsies, which are a heterogeneous group of chronic conditions. Epileptic syndromes are classified according to seizure type and differ in their respective diagnostic criteria, epidemiology, etiologies, medical and surgical treatments, and associated psychiatric conditions. This chapter focuses on interictal psychiatric disturbances. Periictal and ictal psychiatric phenomena are addressed in the discussions of the differential diagnosis for the various interictal phenomena and in other reviews (Trimble, 1991; Schwartz and Marsh, 2000; Marsh and Rao, 2002). The prevalence of epilepsy ranges from 0.4% to 1%, with variation attributed to actual differences in the frequency of epilepsy among population subgroups as well as varying definitions of seizures and of epilepsy (Hauser and Rocca, 1996). The idiopathic generalized epilepsies comprise nearly one-third of all epilepsies and are primarily genetic in origin ( Jallon and Latour, 2005). Partial seizures are the most common seizure type and localization-related or focal epilepsy, especially of temporal lobe origin, is the most common epilepsy syndrome (Keranen, Sillanpaa, and Riekkinen, 1988). The incidence of epilepsy in industrialized countries is highest in the first year of life; it then remains stable until it peaks again after the age of 60 years, when epilepsy is associated with vascular and neurodegenerative conditions. In older adults, however, seizure presentations can be subtle and the diagnosis of epilepsy is frequently missed. Epilepsy is more common in men than women. Multiple factors contribute to higher rates of psychiatric illness in patients with epilepsy. Whether epilepsy itself increases the risk of psychiatric disturbance is unclear; it is important to understand the type and severity of the patient’s epilepsy syndrome, the ictal and peri-ictal features of the seizure, and the relationship of these to the occurrence of the psychiatric phenomena. It is also important to identify whether the patient has any of the special vulnerabilities that influence the risk of psychiatric dysfunction such as the presence of brain injury (eg, from head injury, a congenital neurodevelopmental disorder); use of medications to treat seizures or other conditions that have the potential for adverse psychoactive effects (eg, phenobarbital, benzodiazepines); untoward environmental and psychosocial circumstances; global versus selective cognitive impairments; and temperamental (ie, personality) traits that limit adaptability (Reynolds, 1981).


Neuroreport ◽  
1999 ◽  
Vol 10 (7) ◽  
pp. 1609-1612 ◽  
Author(s):  
Nobuhiro Mikuni ◽  
Kazutoshi Nishiyama ◽  
Thomas L. Babb ◽  
Zhong Ying ◽  
Imad Najm ◽  
...  

2017 ◽  
Vol 2 (2) ◽  
pp. 162-171 ◽  
Author(s):  
Tim J. Veersema ◽  
Cyrille H. Ferrier ◽  
Pieter van Eijsden ◽  
Peter H. Gosselaar ◽  
Eleonora Aronica ◽  
...  

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