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Journal articles on the topic 'Epilepsie gnd'

Author: Grafiati

Published: 4 June 2021

Last updated: 27 July 2025

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1

Jokeit, Hennric, and Thomas Grunwald. "Epilepsie und Ged�chtnisbeeintr�chtigungen." Zeitschrift f�r Epileptologie 16, no. 2 (2003): 137–43. http://dx.doi.org/10.1007/s10309-003-0012-x.

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Malter, Michael P. "Epilepsie mit Antikörpern gegen Glutamat-Decarboxylase (GAD)." Zeitschrift für Epileptologie 33, no. 4 (2020): 303–5. http://dx.doi.org/10.1007/s10309-020-00363-3.

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Frerker, Bernd, Marco Rohde, Steffen Müller, Christian G. Bien, Rüdiger Köhling, and Timo Kirschstein. "Distinct Effects of Stereotactically Injected Human Cerebrospinal Fluid Containing Glutamic Acid Decarboxylase Antibodies into the Hippocampus of Rats on the Development of Spontaneous Epileptic Activity." Brain Sciences 10, no. 2 (2020): 123. http://dx.doi.org/10.3390/brainsci10020123.

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Background: The conversion of glutamic acid into γ-aminobutyric acid (GABA) is catalyzed by the glutamic acid decarboxylase (GAD). Antibodies against this enzyme have been described in neurological disorders, but the pathophysiological role of these antibodies is still poorly understood. We hypothesized that anti-GAD autoantibodies could diminish the GABA content in the slice and facilitate epileptic activity. Methods: Cerebrospinal fluids (CSF) from two patients containing anti-GAD (A and B) were injected into the rat hippocampus in vivo. Hippocampal slices were prepared for electrophysiologi

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UTHAYAKUMAR, R., and D. EASWARAMOORTHY. "EPILEPTIC SEIZURE DETECTION IN EEG SIGNALS USING MULTIFRACTAL ANALYSIS AND WAVELET TRANSFORM." Fractals 21, no. 02 (2013): 1350011. http://dx.doi.org/10.1142/s0218348x13500114.

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This paper explores the three different methods to explicitly recognize the healthy and epileptic EEG signals: Modified, Improved, and Advanced forms of Generalized Fractal Dimensions (GFD). The newly proposed scheme is based on GFD and the discrete wavelet transform (DWT) for analyzing the EEG signals. First EEG signals are decomposed into approximation and detail coefficients using DWT and then GFD values of the original EEGs, approximation and detail coefficients are computed. Significant differences are observed among the GFD values of the healthy and epileptic EEGs allowing us to classify

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., Lalchand, Santosh Kumar, Shahnaz Shah, Amjad Ali Qureshi, Tazeem Hussain, and Amanullah Bhutto. "Prevalence of Depression and Generalized Anxiety Disorder in the Epileptic Adults: A Case-Control Study." Pakistan Journal of Medical and Health Sciences 16, no. 7 (2022): 788–89. http://dx.doi.org/10.53350/pjmhs22167788.

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Aims: The present study aims the determination the frequency of generalized anxiety disorder (GAD) and depression in epileptic individuals and its association with the duration of the disease and frequency of episodes of seizures. Study type: A case-control study Place and Duration: This study was conducted at Ghulam Mohammad Mahar Medical College Sukkur SMBBMU Larkana from February 2021 to February 2022 Methodology: A total of 110 individuals were considered in the study. All of them were young males with a mean age of 23.2±2.5 years. A total of 55 participants were diagnosed with cases of ep

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Leslie, Ariel, and Jianzhong Su. "Modeling and simulation of a network of neurons regarding Glucose Transporter Deficiency induced epileptic seizures." Electronic Research Archive 30, no. 5 (2022): 1813–35. http://dx.doi.org/10.3934/era.2022092.

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<abstract><p>Epilepsy is a complex phenomena of a system of highly intensive and synchronized neurons simultaneously firing which can be traced to spatial and temporal patterns. Seizures are a well known physical feature for all types of epileptic disorders. The rhythms, patterns, and oscillatory dynamics explain the mechanistic nature of neurons especially in absence seizures. Previous models such as Wilson-Cowan (1973), introduced brain models showing the dynamics of a network of neurons consisting of excitatory and inhibitory neurons. Taylor et al. (2014) then adapted the Wilson

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Sotgiu, Stefano, Alessandro Consolaro, Susanna Casellato, Francesc Graus, and Paolo Picco. "Anti-GAD epileptic encephalopathy in a toddler with Parry-Romberg syndrome." Neurological Sciences 41, no. 3 (2019): 705–8. http://dx.doi.org/10.1007/s10072-019-04187-6.

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Baykal, Dilek. "Epilepsili Gebe ve Gebe Olmayan Kadınların Yaşam Kalitesi ve Evlilik Uyumunun Karşılaştırılması." Gevher Nesibe Journal, IESDR 5, no. 6 (2020): 36–44. http://dx.doi.org/10.46648/gnj.56.

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Leem, Eunju, Sehwan Kim, Chanchal Sharma, et al. "Inhibition of Granule Cell Dispersion and Seizure Development by Astrocyte Elevated Gene-1 in a Mouse Model of Temporal Lobe Epilepsy." Biomolecules 14, no. 3 (2024): 380. http://dx.doi.org/10.3390/biom14030380.

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Although granule cell dispersion (GCD) in the hippocampus is known to be an important feature associated with epileptic seizures in temporal lobe epilepsy (TLE), the endogenous molecules that regulate GCD are largely unknown. In the present study, we have examined whether there is any change in AEG-1 expression in the hippocampus of a kainic acid (KA)-induced mouse model of TLE. In addition, we have investigated whether the modulation of astrocyte elevated gene-1 (AEG-1) expression in the dentate gyrus (DG) by intracranial injection of adeno-associated virus 1 (AAV1) influences pathological ph

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Neuray, Caroline, Reza Maroofian, Marcello Scala, et al. "Early-infantile onset epilepsy and developmental delay caused by bi-allelic GAD1 variants." Brain 143, no. 8 (2020): 2388–97. http://dx.doi.org/10.1093/brain/awaa178.

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Abstract Gamma-aminobutyric acid (GABA) and glutamate are the most abundant amino acid neurotransmitters in the brain. GABA, an inhibitory neurotransmitter, is synthesized by glutamic acid decarboxylase (GAD). Its predominant isoform GAD67, contributes up to ∼90% of base-level GABA in the CNS, and is encoded by the GAD1 gene. Disruption of GAD1 results in an imbalance of inhibitory and excitatory neurotransmitters, and as Gad1−/− mice die neonatally of severe cleft palate, it has not been possible to determine any potential neurological dysfunction. Furthermore, little is known about the conse

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Gören, Göker, Abdullah Arı, Hüseyin Nezih Özdemir, and Figen Gökçay. "An atypical Stiff Person Syndrome patient presenting with epileptic seizures, brainstem involvement, and muscle stiffness of the lower body- a case report." Ege Tıp Dergisi 64, no. 2 (2025): 394–97. https://doi.org/10.19161/etd.1624593.

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Stiff Person syndrome (SPS) is a rare autoimmune neurological disorder presenting painful muscle spasms, and stiffness targeting mainly lower limbs, lower back, and abdomen. Antibodies such as Anti-GAD can be found positive. Electromyography is a valuable tool for diagnosing SPS, showing simultaneous contractions of the agonistic and the antagonistic muscle groups. Here in this case study, we present a 40-year-old male with SPS, presenting with usual symptoms of SPS like lower limb and lower back stiffness and painful muscle spasms, but unusual symptoms as well, like epileptic seizures, high a

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çetindağ çiltaş, arzuhan. "PENTİLENTETRAZOL İLE OLUŞTURULAN TUTUŞTURMA(KİNDLİNG) MODEL EPİLEPSİDE 5HT1 AGONİST VE ANTAGONİST'LERİNİN BEYİN TNF-ALFA VE IL1- BETA DÜZEYLERİ ÜZERİNE ETKİLERİ." Gevher Nesibe Journal, IESDR 5, no. 5 (2020): 4–9. http://dx.doi.org/10.46648/gnj.19.

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Molla, Md Khademul Islam, Kazi Mahmudul Hassan, Md Rabiul Islam, and Toshihisa Tanaka. "Graph Eigen Decomposition-Based Feature-Selection Method for Epileptic Seizure Detection Using Electroencephalography." Sensors 20, no. 16 (2020): 4639. http://dx.doi.org/10.3390/s20164639.

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Epileptic seizure is a sudden alteration of behavior owing to a temporary change in the electrical functioning of the brain. There is an urgent demand for an automatic epilepsy detection system using electroencephalography (EEG) for clinical application. In this paper, the EEG signal is divided into short time frames. Discrete wavelet transform is used to decompose each frame into a number of subbands. Different entropies as well as a group of features with which to characterize the spike events are extracted from each subband signal of an EEG frame. The features extracted from individual subb

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Abs, Roger, Ulla Feldt-Rasmussen, Anders F. Mattsson, et al. "Determinants of cardiovascular risk in 2589 hypopituitary GH-deficient adults – a KIMS database analysis." European Journal of Endocrinology 155, no. 1 (2006): 79–90. http://dx.doi.org/10.1530/eje.1.02179.

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Objective: The aim of the present study was to clarify the relationship between GH deficiency (GHD) and some cardiovascular risk factors and to analyse the effect of GH replacement therapy in a large number of patients over a prolonged period of time. Design: Data for analysis were retrieved from KIMS (Pfizer International Metabolic Database). Serum concentrations of total cholesterol, high-density lipoprotein (HDL)-cholesterol, low-density lipoprotein (LDL)-cholesterol and triglycerides were obtained from 2589 patients at baseline and from 1206 patients after 1 and 2 years of GH replacement t

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Kong, Shuzhen, Zhihua Cheng, Jianhui Liu, and Yun Wang. "Downregulated GABA and BDNF-TrkB Pathway in Chronic Cyclothiazide Seizure Model." Neural Plasticity 2014 (2014): 1–11. http://dx.doi.org/10.1155/2014/310146.

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Cyclothiazide (CTZ) has been reported to simultaneously enhance glutamate receptor excitation and inhibit GABAA receptor inhibition, and in turn it evokes epileptiform activities in hippocampal neurons. It has also been shown to acutely induce epileptic seizure behavior in freely moving rats. However, whether CTZ induced seizure rats could develop to have recurrent seizure still remains unknown. In the current study, we demonstrated that 46% of the CTZ induced seizure rats developed to have recurrent seizure behavior as well as epileptic EEG with a starting latency between 2 weeks and several

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He, Li-Ying, Mei-Bian Hu, Ruo-Lan Li та ін. "The Effect of Protein-Rich Extract from Bombyx Batryticatus against Glutamate-Damaged PC12 Cells Via Regulating γ-Aminobutyric Acid Signaling Pathway". Molecules 25, № 3 (2020): 553. http://dx.doi.org/10.3390/molecules25030553.

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Bombyx Batryticatus (BB) is a known traditional Chinese medicine (TCM) utilized to treat convulsions, epilepsy, cough, asthma, headaches, etc. in China for thousands of years. This study is aimed at investigating optimum extraction of protein-rich extracts from BB (BBPs) using response surface methodology (RSM) and exploring the protective effects of BBPs against nerve growth factor (NGF)-induced PC12 cells injured by glutamate (Glu) and their underlying mechanisms. The results indicated optimum process of extraction was as follows: extraction time 1.00 h, ratio of liquid to the raw material 3

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Kumble, Ali, Abhishek K. Phadke, Anciline Siriac, and Manju Jacob. "Beyond the blink: a case report on Jeavons syndrome." International Journal of Contemporary Pediatrics 12, no. 7 (2025): 1262–64. https://doi.org/10.18203/2349-3291.ijcp20251890.

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Jeavons syndrome is a distinct syndrome characterized by the triad of eyelid myoclonia with or without absence seizures, eye closure induced generalized paroxysms, and EEG photosensitivity. We present a 5-year-old female child who was admitted for workup of high blood sugars. On evaluation child was diagnosed with type 1 diabetes mellitus (T1DM). At admission child had features of moderate diabetic ketoacidosis, requiring PICU admission for IV fluid correction and insulin infusion. Low C-peptide levels and elevated GAD antibodies confirmed the diagnosis of T1DM. Notably, the child had a 3-year

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Shadid, Abdullah M., Naif Alsaber, Reema A. Aldawish, et al. "Depression and anxiety among patients with epilepsy: A cross-sectional study from Riyadh, Saudi Arabia." Journal of Family Medicine and Primary Care 13, no. 2 (2024): 549–55. http://dx.doi.org/10.4103/jfmpc.jfmpc_834_23.

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ABSTRACT Background: It is well established that epileptic disorders are associated with a wide range of psychosocial issues that overburden the affected individuals and limit their lifestyle. This study aimed to determine the commonalities between depression and anxiety symptoms among patients with epilepsy (PWE). In addition, we assessed whether depression and anxiety rates varied depending on factors related to the disease. Materials and Methods: A cross-sectional study was conducted between October 2021 and March 2022 among all PWE at Prince Mohammed bin Abdulaziz Hospital, and 147 patient

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Scharfman, Helen E. "Does the Development of a GABAergic Phenotype by Hippocampal Dentate Gyrus Granule Cells Contribute to Epileptogenesis?" Epilepsy Currents 2, no. 2 (2002): 63. http://dx.doi.org/10.1111/j.1535-7597.2002.00023.x.

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Monosynaptic GABAergic Signaling from Dentate to CA3 with a Pharmacological and Physiological Profile Typical of Mossy Fiber Synapses Walker MC, Ruiz A, Kullmann DM Neuron 2001;29:703–715 Mossy fibers are the sole excitatory projection from dentate gyrus granule cells to the hippocampus, where they release glutamate, dynorphin, and zinc. In addition, mossy fiber terminals show intense immunoreactivity for the inhibitory neurotransmitter GABA. Fast inhibitory transmission at mossy fiber synapses, however, has not previously been reported. Here, we show that electrical or chemical stimuli that r

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Alkhotani, Amal Mohammed, and Hanadi Abualela. "Prevalence and predictors of co-occurring functional seizure in patients with epilepsy at a tertiary care center in Makkah." Annals of Saudi Medicine 45, no. 3 (2025): 198–206. https://doi.org/10.5144/0256-4947.2025.198.

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BACKGROUND: A functional seizure (FS) is a paroxysmal event that resembles epileptic seizures (ES) but without associated changes in cortical activity. OBJECTIVE: To assess the prevalence of FS among ES patients admitted to the epilepsy monitoring unit (EMU) in King Abdullah Medical City (KAMC). DESIGN: A retrospective cohort study. SETTING: EMU at KAMC PATIENTS AND METHODS: EMU database from 2015 to 2023 were reviewed. Patients were included in the study if they had a diagnosis of epilepsy and recorded seizure during admission. MAIN OUTCOME MEASURES: The prevalence and the predictors of FS de

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Benardo, Larry S. "Gabaergic Interneuron Reorganization during the Late Period May Contribute to Hippocampal Epileptogenesis." Epilepsy Currents 2, no. 1 (2002): 28–29. http://dx.doi.org/10.1111/j.1535-7597.2002.00011.x.

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Alterations of Hippocampal GABAergic System Contribute to Development of Spontaneous Recurrent Seizures in the Rat Lithium-Pilocarpine Model of Temporal Lobe Epilepsys Andre V, Marescaux C, Nehlig A, Fritschy JM Hippocampus 2001;11:452–468 Reorganization of excitatory and inhibitory circuits in the hippocampal formation following seizure-induced neuronal loss has been proposed to underlie the development of chronic seizures in temporal lobe epilepsy (TLE). Here, we investigated whether specific morphological alterations of the GABAergic system can be related to the onset of spontaneous recurre

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Mohamed, M. Aly-Aldin, H. Mansour Esam, H. Rahma Elsayed, El-Beltagy Abo El-Fath A. ElBedawey E., and M. El-Habashy Magida. "Protective role of flaxseed oil on hypercholesterolemic rats." Biolife 3, no. 4 (2022): 794–801. https://doi.org/10.5281/zenodo.7302710.

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<strong>ABSTRACT</strong> The present study aims to investigate the effects of replacing corn oil content (10%) in the standard diet of hypercholesterolemic rats (fed standard diet + 2% cholesterol for 4 weeks) with 50, 75 and 100% levels of flaxseed oil on the body weight gain, organ weight, blood glucose, liver and kidney functions and lipid profile. Data showed that 2% cholesterol administration caused significant increase in glucose, ALT, AST, ALP, urea, uric acid, triglyceride, total lipids, total cholesterol, LDL and VLDL levels in serum of hypercholesterolemic rats. Body weight gain and

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Bhandari, Sudhir, Ajit Singh Shaktawat, Bhoopendra Patel, et al. "The sequel to COVID-19: the antithesis to life." Journal of Ideas in Health 3, Special1 (2020): 205–12. http://dx.doi.org/10.47108/jidhealth.vol3.issspecial1.69.

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The pandemic of COVID-19 has afflicted every individual and has initiated a cascade of directly or indirectly involved events in precipitating mental health issues. The human species is a wanderer and hunter-gatherer by nature, and physical social distancing and nationwide lockdown have confined an individual to physical isolation. The present review article was conceived to address psychosocial and other issues and their aetiology related to the current pandemic of COVID-19. The elderly age group has most suffered the wrath of SARS-CoV-2, and social isolation as a preventive measure may furth

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"Entlastung des Praxisbudgets bei Epilepsie und GAD." DNP - Der Neurologe und Psychiater 16, no. 1 (2015): 63. http://dx.doi.org/10.1007/s15202-015-0612-0.

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"Entlastung des Praxisbudgets bei Epilepsie und GAD." NeuroTransmitter 26, no. 1 (2015): 63. http://dx.doi.org/10.1007/s15016-015-0539-x.

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Özözen Ayas, Zeynep. "Epileptic activity in a patient with serum anti-GAD antibody-positive limbic encephalitis." Journal of the Turkish Epilepsi Society, 2019. http://dx.doi.org/10.14744/epilepsi.2019.16870.

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Saini, Lokesh, Swetlana Mukherjee, Pradeep Kumar Gunasekaran, et al. "Neurodevelopmental Outcomes of a Cohort of Children with Tuberous Sclerosis Complex with Epileptic Spasms." Neuropediatrics, June 28, 2023. http://dx.doi.org/10.1055/s-0043-1770937.

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Abstract Background The neurodevelopmental outcomes in children with tuberous sclerosis complex (TSC) with epileptic spasms remain underdiagnosed and might be responsible for significant morbidity and mortality burdens, even after spasms abate. Methods The study was a cross-sectional study over 18 months at a tertiary care pediatric hospital, involving 30 children with TSC who had epileptic spasms. They were assessed with Diagnostic and Statistical Manual of Mental Disorders-5 criteria for autism spectrum disorder (ASD), attention deficit hyperactivity disorder (ADHD), and intellectual disabil

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Kessi, Miriam, Baiyu Chen, Nan Pang, et al. "The genotype–phenotype correlations of the CACNA1A-related neurodevelopmental disorders: a small case series and literature reviews." Frontiers in Molecular Neuroscience 16 (July 24, 2023). http://dx.doi.org/10.3389/fnmol.2023.1222321.

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BackgroundGenotype–phenotype correlations of the CACNA1A-related neurodevelopmental disorders such as global developmental delay (GDD)/intellectual disability (ID), epileptic encephalopathy (EE), and autism spectrum disorder (ASD) are unknown. We aimed to summarize genotype–phenotype correlations and potential treatment for CACNA1A-related neurodevelopmental disorders.MethodsSix children diagnosed with CACNA1A-related neurodevelopmental disorders at Xiangya Hospital, Central South University from April 2018 to July 2021 were enrolled. The PubMed database was systematically searched for all rep

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Wagner, Kathrin, Theo Demerath, Sarah Metzger, et al. "Developmental and epileptic encephalopathy in patients with epilepsy due to hypothalamic hamartomas." Epilepsia, April 10, 2025. https://doi.org/10.1111/epi.18404.

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AbstractObjectiveWhat factors influence cognition and behavior in patients with epilepsy caused by hypothalamic hamartoma (HH)?MethodsWe conducted a retrospective study of 103 patients referred to the Epilepsy Center in Freiburg, Germany, over the past 24 years. Analyzed parameters included development/intellectual functioning, behavior, seizure types and frequency, as well as electroencephalography (EEG) and magnetic resonance imaging (MRI) analyses.ResultsHalf of the patients showed signs of global developmental delay (GDD) or intellectual disability (ID). Patients with GDD/ID were younger a

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Kopczak, Anna, Adrian-Minh Schumacher, Sandra Nischwitz, Tania Kümpfel, Günter K. Stalla, and Matthias K. Auer. "GAD antibody-associated limbic encephalitis in a young woman with APECED." Endocrinology, Diabetes & Metabolism Case Reports 2017 (May 25, 2017). http://dx.doi.org/10.1530/edm-17-0010.

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Summary The autoimmune polyendocrinopathy–candidiasis–ectodermal dystrophy (APECED) syndrome is a genetic disorder caused by a mutation in the autoimmune regulator (AIRE) gene. Immune deficiency, hypoparathyroidism and Addison’s disease due to autoimmune dysfunction are the major clinical signs of APECED. We report on a 21-year-old female APECED patient with two inactivating mutations in the AIRE gene. She presented with sudden onset of periodic nausea. Adrenal insufficiency was diagnosed by means of the ACTH stimulation test. Despite initiation of hormone replacement therapy with hydrocortiso

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Bakr, Salwa Ibrahim, Abeer Al-Sayed Ali Shehab, Hany Mahmoud Zakieldine, Nesrine Aly Mohamed, and Yara Younis Mohamed Masry. "Anti-CASPR2, Anti-LGI1, and Anti-GAD65 Autoantibodies in Patients with Intractable Epilepsy." QJM: An International Journal of Medicine 116, Supplement_1 (2023). http://dx.doi.org/10.1093/qjmed/hcad069.211.

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Abstract Background Autoimmunity is increasingly being recognized as a cause of intractable epilepsy. The autoimmune epilepsies (AE) are immunologically mediated disorders in which recurrent seizures are a primary and persistent clinical feature. When other etiologies have been excluded, an autoimmune etiology of epilepsy is suggested in the presence of resistance to anti-epileptic drugs (AED). In such patients, immunotherapy may be highly effective, depending on the particular autoimmune epilepsy syndrome present. Objective To investigate the presence of Contactin associated protein like 2 (C

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Orcinha, Catarina, Antje Kilias, Enya Paschen, Marie Follo, and Carola A. Haas. "Reelin Is Required for Maintenance of Granule Cell Lamination in the Healthy and Epileptic Hippocampus." Frontiers in Molecular Neuroscience 14 (August 13, 2021). http://dx.doi.org/10.3389/fnmol.2021.730811.

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One characteristic feature of mesial temporal lobe epilepsy is granule cell dispersion (GCD), a pathological widening of the granule cell layer in the dentate gyrus. The loss of the extracellular matrix protein Reelin, an important positional cue for neurons, correlates with GCD formation in MTLE patients and in rodent epilepsy models. Here, we used organotypic hippocampal slice cultures (OHSC) from transgenic mice expressing enhanced green fluorescent protein (eGFP) in differentiated granule cells (GCs) to monitor GCD formation dynamically by live cell video microscopy and to investigate the

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Molinero, Isaac, Vishal Mandge, and Susan Duberstein Coad. "Anti-GAD Antibody Associated Encephalitis: A Child with Epilepsia Partialis Continua and Ataxia (P2.2-020)." Neurology 92, no. 15_supplement (2019). http://dx.doi.org/10.1212/wnl.92.15_supplement.p2.2-020.

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Jonsson, Henna, Eija Gaily, Susanna Stjerna, et al. "Epilepsies with onset during the first year of life: A prospective study on syndromes, etiologies, and outcomes." Epilepsia Open, May 24, 2024. http://dx.doi.org/10.1002/epi4.12966.

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AbstractObjectiveInfantile seizures cause great concern for both doctors and parents. In addition to modern neuroimaging and genetics, clinical tools helpful in predicting the course of the disease are needed. We prospectively studied the incidence, electroclinical characteristics and etiologies of epilepsy syndromes with onset before the age of 12 months and looked for prognostic determinants of outcome by age 24 months.MethodsFrom February 2017 through May 2019, we recruited all eligible infants diagnosed with epilepsy at our unit. Data on electroclinical studies, genetic investigations and

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Najlerahim, A., S. F. Williams, R. C. A. Pearson, and J. G. R. Jefferys. "Increased expression of GAD mRNA during the chronic epileptic syndrome due to intrahippocampal tetanus toxin." Experimental Brain Research 90, no. 2 (1992). http://dx.doi.org/10.1007/bf00227246.

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Aouchiche, Karine, Pauline Romanet, Anne Barlier, et al. "CSNK2B Mutation: A Rare Cause of IGHD." Clinical Endocrinology, December 15, 2024. https://doi.org/10.1111/cen.15174.

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ABSTRACTObjectivePoirier‐Bienvenu neurodevelopmental syndrome (POBINDS) is a rare neurodevelopmental syndrome, resulting from germline heterozygous CSNKB2 pathogenic variants. The main presentations are severe epilepsy, delayed psychomotor development, and/or profound intellectual disability. More recently, CSNK2B pathogenic variants have been reported in patients with mild intellectual disability and no history of epileptic symptoms. Short stature is present in 66% of patients, in half of these cases due to proven growth hormone deficiency.MethodsWhole genome sequencing (WGS) was performed th

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Cohen, Eli, Prince Antwi, Barara C. Banz, et al. "Realistic driving simulation during generalized epileptiform discharges to identify electroencephalographic features related to motor vehicle safety: Feasibility and pilot study." September 9, 2019. https://doi.org/10.1111/epi.16356.

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Abstract Objective: Generalized epileptiform discharges (GEDs) can occur during seizures or without obvious clinical accompaniment. Motor vehicle driving risk during apparently subclinical GEDs is uncertain. Our goals were to develop a feasible, realistic test to evaluate driving safety during GEDs, and to begin evaluating electroencephalographic (EEG) features in relation to driving safety. Methods: Subjects were aged ≥15 years with generalized epilepsy, GEDs on EEG, and no clinical seizures. Using a high‐fidelity driving simulator (miniSim) with simultaneous EEG, a red oval visual stimulu

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Leifeld, Jennifer, Eckart Förster, Gebhard Reiss, and Mohammad I. K. Hamad. "Considering the Role of Extracellular Matrix Molecules, in Particular Reelin, in Granule Cell Dispersion Related to Temporal Lobe Epilepsy." Frontiers in Cell and Developmental Biology 10 (June 6, 2022). http://dx.doi.org/10.3389/fcell.2022.917575.

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The extracellular matrix (ECM) of the nervous system can be considered as a dynamically adaptable compartment between neuronal cells, in particular neurons and glial cells, that participates in physiological functions of the nervous system. It is mainly composed of carbohydrates and proteins that are secreted by the different kinds of cell types found in the nervous system, in particular neurons and glial cells, but also other cell types, such as pericytes of capillaries, ependymocytes and meningeal cells. ECM molecules participate in developmental processes, synaptic plasticity, neurodegenera

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Varma-Doyle, Aditi, Julio Vega, Katherine Wojcicki, Maria Weimer, and Daniella Miller. "Epilepsia Partialis Continua & Stiff Person Syndrome Occurring Together in a Child with Anti-GAD Antibody Positivity (2643)." Neurology 96, no. 15_supplement (2021). http://dx.doi.org/10.1212/wnl.96.15_supplement.2643.

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Zhang, Yifan, Michiel Vanmeert, Aleksandra Siekierska, et al. "Inhibition of glutamate decarboxylase (GAD) by ethyl ketopentenoate (EKP) induces treatment-resistant epileptic seizures in zebrafish." Scientific Reports 7, no. 1 (2017). http://dx.doi.org/10.1038/s41598-017-06294-w.

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Franz, Julia, Nicole Barheier, Henrike Wilms, Susanne Tulke, Carola A. Haas, and Ute Häussler. "Differential vulnerability of neuronal subpopulations of the subiculum in a mouse model for mesial temporal lobe epilepsy." Frontiers in Cellular Neuroscience 17 (March 29, 2023). http://dx.doi.org/10.3389/fncel.2023.1142507.

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Selective loss of inhibitory interneurons (INs) that promotes a shift toward an excitatory predominance may have a critical impact on the generation of epileptic activity. While research on mesial temporal lobe epilepsy (MTLE) has mostly focused on hippocampal changes, including IN loss, the subiculum as the major output region of the hippocampal formation has received less attention. The subiculum has been shown to occupy a key position in the epileptic network, but data on cellular alterations are controversial. Using the intrahippocampal kainate (KA) mouse model for MTLE, which recapitulate

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Reno Sutam,a, I. Komang. "MULTIPEL ANOMALI PADA DANDY-WALKER CONTINUUM: SEBUAH LAPORAN KASUS." Majalah Kedokteran Neurosains Perhimpunan Dokter Spesialis Saraf Indonesia 41, no. 2 (2025). https://doi.org/10.52386/neurona.v41i2.519.

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Dandy-Walker Continuum (DWC) adalah spektrum kelainan neurologis bawaan langka yang memengaruhi perkembangan serebelum. Kelainan yang terjadi umumnya berkaitan dengan sindroma serebelum tetapi pada kenyataannya dapat memengaruhi perkembangan otak secara luas. Dilaporkan sebuah kasus DWC pada anak usia 4 tahun, yang lahir dengan hidrosefalus komunikan dan epilepsi, yang telah menjalani operasi pemasangan VP-Shunt. Pada hasil skrining perkembangan,pasien menunjukkan suatu Global Delay Developmental (GDD) dan gangguan penglihatan. Menurut pemeriksaan funduskopi, ditemukan adanya papil atrofi prim

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Berio, A., G. Mangiante, and A. Piazzi. "Autoimmunity and epilepsy in children." Journal of Biological Research - Bollettino della Società Italiana di Biologia Sperimentale 86, no. 1 (2013). http://dx.doi.org/10.4081/jbr.2013.3665.

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Objective of this paper is to investigate whether autoantibodies are present in a cluster of patients with epilepsy. In 3 out of 88 epileptic patients, in whom no metabolic, bacterial, viral or malformative origin war demonstrated, the Authors showed the presence of antibodies to thyroid microsomes in 2, to nucleus (ANA) in 2, to glutamic acid decarboxylase (GAD) in 1, to transglutaminase in 1. In 2, reduced seizures by immunomodulant therapy were observed. The autoantibodies may have played a role in the pathogenesis of epilepsy, as demonstrated by positive result of the immunomodulant therap

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Chiang, Chia‐Chu, Miao‐Er Chien, Yu‐Chieh Huang, et al. "Cathodal weak direct current decreases epileptic excitability with reduced neuronal activity and enhanced delta oscillations." Journal of Physiology, April 7, 2025. https://doi.org/10.1113/jp287969.

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AbstractSeizures are manifestations of hyperexcitability in the brain. Non‐invasive weak current stimulation, delivered through cathodal transcranial direct current stimulation (ctDCS), has emerged to treat refractory epilepsy and seizures, although the cellular‐to‐populational electrophysiological mechanisms remain unclear. Using the ctDCS in vivo model, we investigate how neural excitability is modulated through weak direct currents by analysing the local field potential (LFP) and extracellular unit spike recordings before, during and after ctDCS versus sham stimulation. In rats with kainic

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Shchubelka, Khrystyna, Liudmyla Turova, Walter Wolfsberger, et al. "Genetic determinants of global developmental delay and intellectual disability in Ukrainian children." Journal of Neurodevelopmental Disorders 16, no. 1 (2024). http://dx.doi.org/10.1186/s11689-024-09528-x.

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Abstract Background Global developmental delay or intellectual disability usually accompanies various genetic disorders as a part of the syndrome, which may include seizures, autism spectrum disorder and multiple congenital abnormalities. Next-generation sequencing (NGS) techniques have improved the identification of pathogenic variants and genes related to developmental delay. This study aimed to evaluate the yield of whole exome sequencing (WES) and neurodevelopmental disorder gene panel sequencing in a pediatric cohort from Ukraine. Additionally, the study computationally predicted the effe

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Whitney, Robyn, Anne Keller, Shelly‐Anne Li, et al. "Circumstances surrounding sudden unexpected death in epilepsy in children: A national case series." Epilepsia, April 5, 2025. https://doi.org/10.1111/epi.18339.

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AbstractObjectiveThis study was undertaken to understand the circumstances surrounding pediatric sudden unexpected death in epilepsy (SUDEP) and identify clinical factors that may be associated with SUDEP in childhood.MethodsA retrospective case series was conducted. Pediatric SUDEP cases were collected across Canada from the Ontario Forensic Pathology Service, Canadian Pediatric Surveillance Program, and Canadian Pediatric Epilepsy Network. Demographics, epilepsy history, comorbidities, and circumstances surrounding death were analyzed.ResultsForty‐nine children with pediatric SUDEP were anal

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Scorrano, Giovanna, Giulia Barcia, Jérôme Champ, et al. "GATAD2B‐related developmental and epileptic encephalopathy (DEE): Extending the epilepsy phenotype and a literature appraisal." Epilepsia Open, February 20, 2025. https://doi.org/10.1002/epi4.13133.

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AbstractHeterozygous pathogenic variants in GATAD2B gene have been related to the GATAD2B‐associated neurodevelopmental disorders (GAND) characterized by neurodevelopmental delay with predominant language impairment, infantile hypotonia, macrocephaly, ophthalmological abnormalities, and dysmorphic facial features with nonspecific findings on brain magnetic resonance imaging (MRI). Occasionally, affected individuals exhibit drug responsive epilepsy, psychiatric disorders, and other extra‐neurological comorbidities. We report a patient carrying a de novo heterozygous missense variant in GATAD2B

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Wang, Sumei, Yejing Yu, Xu Wang, et al. "Emerging evidence of genotype–phenotype associations of developmental and epileptic encephalopathy due to KCNC2 mutation: Identification of novel R405G." Frontiers in Molecular Neuroscience 15 (August 25, 2022). http://dx.doi.org/10.3389/fnmol.2022.950255.

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Developmental and epileptic encephalopathies (DEEs) have high genetic heterogeneity, and DEE due to the potassium voltage-gated channel subfamily C member 2 (KCNC2) variant remains poorly understood, given the scarcity of related case studies. We report on two unrelated Chinese patients, an 11-year-old boy and a 5-year-old girl, diagnosed with global developmental delay (GDD), intellectual disability (ID), and focal impaired awareness seizure characterized by generalized spike and wave complexes on electroencephalogram (EEG) in the absence of significant brain lesions. Whole-exome sequencing (

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Liang, Jingting, Xiangguo Yin, and Mingxing Lin. "An Enhanced Microstate Clustering Algorithm Based on Canopy, K-means, and Genetic Simulated Annealing." Biomedical Physics & Engineering Express, May 19, 2025. https://doi.org/10.1088/2057-1976/adda50.

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Abstract Background: Electroencephalogram (EEG) microstate analysis can capture transient patterns of brain activity and provide valuable insights into brain motor and cognitive functions. However, the performance of traditional microstate analysis algorithms limits a deeper understanding of the neural mechanisms behind complex conditions. Methods: This study proposed a Canopy-KM-GSA algorithm, which combines Canopy clustering algorithm, K-means algorithm and genetic simulated annealing framework to automatically determine the optimal number of microstates and refine the clustering sequence. U

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Basnyat, Pabitra, Maria Peltola, Jani Raitanen, et al. "Elevated IL-6 plasma levels are associated with GAD antibodies-associated autoimmune epilepsy." Frontiers in Cellular Neuroscience 17 (March 21, 2023). http://dx.doi.org/10.3389/fncel.2023.1129907.

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BackgroundAntibodies against glutamic acid decarboxylase (GADA) are present in multiple neurological manifestations, such as stiff-person syndrome, cerebellar ataxia, limbic encephalitis, and epilepsy. Increasing data support the clinical significance of GADA as an autoimmune etiology of epilepsy, however, there is not yet definitive evidence to confirm the pathogenic link between GADA and epilepsy.ObjectiveInterleukin-6 (IL-6), a pro-convulsive and neurotoxic cytokine, and interleukin-10 (IL-10), an anti-inflammatory and neuroprotective cytokine, are crucial inflammatory mediators in the brai

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