Use the keywords feature with a free QxMD account.
Use Read by QxMD to access full text via your institution or open access sources.
Read also provides personalized recommendations to keep you up to date in your field.
Existing User
Sign InNew to Read
Sign Up#21
JOURNAL ARTICLE
Kota Kagawa, Koji Iida, Nobutaka Horie
In patients with intractable epilepsy, seizure focus resection can yield favorable seizure outcomes. First, the localization of the seizure focus is estimated by noninvasive methods such as magnetic resonance imaging(MRI), video-electroencephalography(EEG)monitoring, nuclear medicine examinations, magnetoencephalography, and neuropsychological tests. A subgroup of patients may require additional information obtained from the intracranial EEG. There are two major methods for intracranial EEG: intracranial EEG with subdural grid electrodes(SDG)and stereotactic electroencephalography...
March 2024: No Shinkei Geka. Neurological Surgery
#22
Marcia Mejia, Santiago Vargas Arango, Sergio Vargas Vélez, Jonathan Pimiento Figueroa
Hemimegalencephaly is a rare congenital anomaly characterized by an increase in the size and dysplastic involvement of one cerebral hemisphere, which can be partial or complete. It may also be associated with anomalies in the cerebellum and brainstem and, in some cases, be a part of different syndromes. The result of these abnormalities leads to intractable epilepsy and developmental delay. Diagnosis is typically made through imaging studies in the postnatal period, but it can also be done before birth...
February 2024: Curēus
#23
JOURNAL ARTICLE
Xuhong Li, Heng Liu, Tijiang Zhang
OBJECTIVE: The study aimed at investigating functional connectivity strength (FCS) changes in children with MRI-negative intractable epilepsy (ITE) and evaluating correlations between aberrant FCS and both disease duration and intelligence quotient (IQ). METHODS: Fifteen children with ITE, 24 children with non-intractable epilepsy (nITE) and 25 matched healthy controls (HCs) were subjected to rs-fMRI. IQ was evaluated by neuropsychological assessment. Voxelwise analysis of covariance was conducted in the whole brain, and then pairwise comparisons were made across three groups using Bonferroni corrections...
2024: Frontiers in Human Neuroscience
#24
JOURNAL ARTICLE
Alwan Iktimal, Dennis D Spencer, Rafeed Alkawadri
Using 6-minute free-running intracranial-electroencephalogram (icEEG) during sleep, an optimized multilayer perceptron (MLP) neural network accurately maps the sensorimotor cortex (SM) and identifies the anterior lip of the central sulcus (CS) in intractable epilepsy patients. We calculated 6 performance metrics to evaluate the MLP's efficacy: accuracy, area under the curve (AUC), recall, precision, F1-scores, and specificity. Each layer had 4 neurons with hyperbolic TanH activation function and 4 with Gaussian distribution function...
March 20, 2024: Annals of Neurology
#25
JOURNAL ARTICLE
T Bin Teni, N A Almutairi, S Abuhaimed, S Alaskar, G Alkhamis, B A Alsfouk, M R Almarzouqi, S Alageel, A Alsemari
OBJECTIVE: This study aimed to evaluate the efficacy and tolerability of perampanel, which was used in a cohort of patients with refractory epilepsy for up to 3.5 years in a real-world setting in Saudi Arabia. PATIENTS AND METHODS: Data from the medical records of patients treated with perampanel between March 13th, 2017, and September 6th, 2020, at neurology clinics at King Faisal Specialist Hospital and Research Centre (KFSHRC), Riyadh and Jeddah, Saudi Arabia, was collected...
March 2024: European Review for Medical and Pharmacological Sciences
#26
JOURNAL ARTICLE
Qi Huang, Pandeng Xie, Jian Zhou, Haoran Ding, Zhao Liu, Tianfu Li, Yuguang Guan, Mengyang Wang, Jing Wang, Pengfei Teng, Mingwang Zhu, Kaiqiang Ma, Han Wu, Guoming Luan, Feng Zhai
BACKGROUND: One-third of intractable epilepsy patients have no visually identifiable focus for neurosurgery based on imaging tests [magnetic resonance imaging (MRI)-negative cases]. Stereo-electroencephalography-guided radio-frequency thermocoagulation (SEEG-guided RF-TC) is utilized in the clinical treatment of epilepsy to lower the incidence of complications post-open surgery. OBJECTIVE: This study aimed to identify prognostic factors and long-term seizure outcomes in SEEG-guided RF-TC for patients with MRI-negative epilepsy...
2024: Therapeutic Advances in Chronic Disease
#27
JOURNAL ARTICLE
Miraç Yıldırım, Mert Altıntaş, Ece Uysal, Ömer Bektaş, Serap Teber
PURPOSE: Early childhood epilepsy presents a significant challenge, with approximately 30 % of individuals experiencing treatment failure. This study aimed to identify predictors of medical intractability in children with epilepsy onset during the first two years of life, excluding infantile epileptic spasm syndrome. METHODS: A total of 323 children were retrospectively evaluated. The analyses included a review of medical records for demographic, laboratory, radiological, and electroencephalographic (EEG) findings...
March 9, 2024: Seizure: the Journal of the British Epilepsy Association
#28
JOURNAL ARTICLE
Alfonso Fajardo-Valdez, Vicente Camacho-Téllez, Raúl Rodríguez-Cruces, María Luisa García-Gomar, Erick Humberto Pasaye, Luis Concha
Temporal lobe epilepsy (TLE) is a common form of medically intractable epilepsy. Although seizures originate in mesial temporal structures, there are widespread abnormalities of gray and white matter beyond the temporal lobes that negatively impact functional networks and cognition. Previous studies have focused either on the global impact on functional networks, or on the functional correlates of specific cognitive abilities. Here, we use a two-pronged approach to evaluate the link between whole-brain functional connectivity (FC) anomalies to overall cognitive performance, and how such abnormal connectivity alters the fronto-parietal brain regions involved in working memory (WMem), a cognitive disability often reported by TLE patients...
2024: PloS One
#29
JOURNAL ARTICLE
Maya Tojima, Akihiro Shimotake, Shuichiro Neshige, Tadashi Okada, Katsuya Kobayashi, Kiyohide Usami, Masao Matsuhashi, Masayuki Honda, Hirofumi Takeyama, Takefumi Hitomi, Takeshi Yoshida, Atsushi Yokoyama, Yasutaka Fushimi, Tsukasa Ueno, Yukihiro Yamao, Takayuki Kikuchi, Takao Namiki, Yoshiki Arakawa, Ryosuke Takahashi, Akio Ikeda
OBJECTIVE: Degree of indication for epilepsy surgery is determined by taking multiple factors into account. This study aimed to investigate the usefulness of the Specific Consistency Score (SCS), a proposed score for focal epilepsy to rate the indication for epilepsy focal resection. METHODS: This retrospective cohort study included patients considered for resective epilepsy surgery in Kyoto University Hospital from 2011 to 2022. Plausible epileptic focus was tentatively defined...
March 12, 2024: Epilepsia
#30
JOURNAL ARTICLE
Generation of two patient specific GABRD variants and their isogenic controls for modeling epilepsy.
Morad Kamand, Reema Taleb, Methi Wathikthinnakon, Fadumo Abdullahi Mohamed, Said Pasalar Ghazanfari, Denis Konstantinov, Jonas Laugård Hald, Bjørn Holst, Charlotte Brasch-Andersen, Rikke S Møller, Johannes R Lemke, Ilona Krey, Kristine Freude, Abinaya Chandrasekaran
Developmental and epileptic encephalopathies (DEEs) are early-onset conditions that cause intractable seizures and developmental delays. Missense variants in Gamma-aminobutyric acid type A receptor (GABAAR) subunits commonly cause DEEs. Ahring et al. (2022) showed a variant in the gene that encodes the delta subunit (GABRD) is strongly associated with the gain-of-function of extrasynaptic GABAAR. Here, we report the generation of two patient-specific human induced pluripotent stem cells (hiPSC) lines with (i) a de novo variant and (ii) a maternal variant, both for the pathogenic GABRD c...
March 2, 2024: Stem Cell Research
#31
JOURNAL ARTICLE
Hargunbir Singh, Christian R Osswald, Aaron Rossman, Verena Knappe, Lonnie Schneider, Candace L Floyd, John D Rolston
OBJECTIVE: MRI-guided laser interstitial thermal therapy (MRgLITT) has recently gained interest as an ablative stereotactic procedure for intractable epilepsy, movement disorders, and brain tumors. Conventionally, a LITT system consists of a laser generator and cooled laser applicator, which is a fiber optic core surrounded by a sheath through which cooled fluid is pumped. However, this footprint can make the system bulky and nonmobile, limit the maximum depth of targeting, and increase the chances of breakdown...
March 8, 2024: Journal of Neurosurgery
#32
JOURNAL ARTICLE
Jai Sidpra, Sniya Sudhakar, Asthik Biswas, Flavia Massey, Valentina Turchetti, Tracy Lau, Edward Cook, Javeria Raza Alvi, Hasnaa M Elbendary, Jerry L Jewell, Antonella Riva, Alessandro Orsini, Aglaia Vignoli, Zara Federico, Jessica Rosenblum, An-Sofie Schoonjans, Matthias de Wachter, Ignacio Delgado Alvarez, Ana Felipe-Rucián, Nourelhoda A Haridy, Shahzad Haider, Mashaya Zaman, Selina Banu, Najwa Anwaar, Fatima Rahman, Shazia Maqbool, Rashmi Yadav, Vincenzo Salpietro, Reza Maroofian, Rajan Patel, Rupa Radhakrishnan, Sanjay P Prabhu, Klaske Lichtenbelt, Helen Stewart, Yoshiko Murakami, Ulrike Löbel, Felice D'Arco, Emma Wakeling, Wendy Jones, Eleanor Hay, Sanjay Bhate, Thomas S Jacques, David M Mirsky, Matthew T Whitehead, Maha S Zaki, Tipu Sultan, Pasquale Striano, Anna C Jansen, Maarten Lequin, Linda S de Vries, Mariasavina Severino, Andrew C Edmondson, Lara Menzies, Philippe M Campeau, Henry Houlden, Amy McTague, Stephanie Efthymiou, Kshitij Mankad
Inherited glycosylphosphatidylinositol deficiency disorders (IGDs) are a group of rare multisystem disorders arising from pathogenic variants in glycosylphosphatidylinositol anchor pathway (GPI-AP) genes. Despite associating 24 of at least 31 GPI-AP genes with human neurogenetic disease, prior reports are limited to single genes without consideration of the GPI-AP as a whole and with limited natural history data. In this multinational retrospective observational study, we systematically analyse the molecular spectrum, phenotypic characteristics, and natural history of 83 individuals from 75 unique families with IGDs, including 70 newly reported individuals: the largest single cohort to date...
March 8, 2024: Brain
#33
Kota Kagawa, Koji Iida, Akira Hashizume, Go Seyama, Akitake Okamura, Rofat Askoro, Nobutaka Horie
Stereotactic electroencephalography (SEEG) is an increasingly popular surgical modality for localizing the epileptogenic zone. Robot-guided stereotactic electrode placement has been covered in Japan by National Health Insurance since 2020. However, several surgical devices, such as the anchor bolt (a thin, hollow, metal shaft that serves as a guide screw or fixing for each electrode), have not been approved. A 14-year-old female who underwent SEEG for intractable epilepsy and required additional surgery to remove a retained depth electrode from the skull after the SEEG monitoring was finished...
2024: NMC Case Report Journal
#34
REVIEW
Sam Amin, Rikke S Møller, Angel Aledo-Serrano, Alexis Arzimanoglou, Patrick Bager, Sergiusz Jóźwiak, Gerhard Josef Kluger, Sandra López-Cabeza, Rima Nabbout, Carol-Anne Partridge, Susanne Schubert-Bast, Nicola Specchio, Reetta Kälviäinen
Cyclin-dependent kinase-like 5 (CDKL5) deficiency disorder (CDD) is a developmental and epileptic encephalopathy caused by variants in the CDKL5 gene. The disorder is characterized by intractable early-onset seizures, severe neurodevelopmental delay, hypotonia, motor disabilities, cerebral (cortical) visual impairment and microcephaly. With no disease-modifying therapies available for CDD, treatment is symptomatic with an initial focus on seizure control. Another unmet need in the management of people with CDD is the lack of evidence to aid standardized care and guideline development...
March 7, 2024: Epilepsia Open
#35
Boumeriem Khaoula, Bourekba Iliass, Allali Nazik, Chat Latifa, El Haddad Siham
Dyke Davidoff-Masson syndrome is a rare neurological condition that results from brain injury during early childhood stages. The precise incidence of this condition is unknown, with a slight male predominance, and adult forms have been documented. Imaging findings reveal hemisphere atrophy along with ipsilateral compensatory skull changes and hyper-pneumatization of mastoid cells. The treatment approach involves anti-epileptic medications and hemispherectomy is reserved for cases with intractable seizures. This case report delineates the clinical manifestation and therapeutic approach employed in an 8-year-old male patient exhibiting pharmaco-resistant left hemi-body convulsive seizures...
2024: Global Pediatric Health
#36
JOURNAL ARTICLE
Lena H Nguyen, Youfen Xu, Maanasi Nair, Angelique Bordey
Brain somatic mutations in various components of the mTOR complex 1 (mTORC1) pathway have emerged as major causes of focal malformations of cortical development and intractable epilepsy. While these distinct gene mutations converge on excessive mTORC1 signaling and lead to common clinical manifestations, it remains unclear whether they cause similar cellular and synaptic disruptions underlying cortical network hyperexcitability. Here, we show that in utero activation of the mTORC1 activator genes, Rheb or MTOR , or biallelic inactivation of the mTORC1 repressor genes, Depdc5 , Tsc1 , or Pten in the mouse medial prefrontal cortex leads to shared alterations in pyramidal neuron morphology, positioning, and membrane excitability but different changes in excitatory synaptic transmission...
February 27, 2024: ELife
#37
JOURNAL ARTICLE
Ren-Ke Li, Yu-Rong Xiong, Shu-Jing Pan, Wen-Ting Lei, Xiao-Mei Shu, Xiao-Qi Shi, Mao-Qiang Tian
PURPOSE: The TRAK1 gene is mapped to chromosome 3p22.1 and encodes trafficking protein kinesin binding 1. The aim of this study was to investigate the genotype-phenotype of TRAK1 -associated epilepsy. METHODS: Trio-based whole-exome sequencing was performed on a cohort of 98 patients with epilepsy of unknown etiologies. Protein modeling and the VarCards database were used to predict the damaging effects of the variants. Detailed neurological phenotypes of all patients with epilepsy having TRAK1 variants were analyzed to assess the genotype-phenotype correlations...
2024: Frontiers in Molecular Neuroscience
#38
JOURNAL ARTICLE
Yu Hong, Zhuoyuan Zhang, Tsering Yangzom, Anbin Chen, Bjørn Christian Lundberg, Evandro Fei Fang, Richard Siller, Gareth John Sullivan, Jiri Zeman, Charalampos Tzoulis, Laurence A Bindoff, Kristina Xiao Liang
Alpers' syndrome is an early-onset neurodegenerative disorder usually caused by biallelic pathogenic variants in the gene encoding the catalytic subunit of polymerase-gamma (POLG), which is essential for mitochondrial DNA (mtDNA) replication. The disease is progressive, incurable, and inevitably it leads to death from drug-resistant status epilepticus. The neurological features of Alpers' syndrome are intractable epilepsy and developmental regression, with no effective treatment; the underlying mechanisms are still elusive, partially due to lack of good experimental models...
2024: International Journal of Biological Sciences
#39
JOURNAL ARTICLE
Jack Lin, Garnett C Smith, Stephen V Gliske, Michal Zochowski, Kerby Shedden, William C Stacey
High frequency oscillations are a promising biomarker of outcome in intractable epilepsy. Prior high frequency oscillation work focused on counting high frequency oscillations on individual channels, and it is still unclear how to translate those results into clinical care. We show that high frequency oscillations arise as network discharges that have valuable properties as predictive biomarkers. Here, we develop a tool to predict patient outcome before surgical resection is performed, based on only prospective information...
2024: Brain communications
#40
JOURNAL ARTICLE
Nina Doorn
Dravet Syndrome (DS) is a severe developmental epileptic encephalopathy with frequent intractable seizures accompanied by cognitive impairment, often caused by pathogenic variants in SCN1A encoding sodium channel NaV 1.1. Recent research utilizing in vitro patient-derived neuronal networks and accompanying in silico models uncovered that not just sodium-but also potassium-and synaptic currents were impaired in DS networks. Here, we explore the implications of these findings for three questions that remain elusive in DS: How do sodium channel impairments result in epilepsy? How can identical variants lead to varying phenotypes? What mechanisms underlie the developmental delay in DS patients? We speculate that impaired potassium currents might be a secondary effect to NaV 1...
2024: Science Progress
Make the most of Read.
Download the mobile app.
Download the mobile app.
Fetching more papers... 
