Heterozygous females from a rat model for creatine transporter deficiency reveal altered behavioral response to stressors, normal body weight and slight metabolic changes by Lara Duran-Trio, Marc Lanzillo, Dunja Simicic, Clothilde Roux-Petronelli, Stephen J. Bruce, Carmen Sandi, Cristina Cudalbu, Cristina Cudalbu, Olivier Braissant

“…Cerebral Cr deficiency syndromes (CCDS), due to AGAT, GAMT or CrT deficiencies, are metabolic diseases characterized by brain Cr deficiency, causing a range of clinical features such as severe neurodevelopmental delays and intellectual disability, behavioral disturbances, motor dysfunction and epilepsy. Among CCDS, the X-linked CrT deficiency (CTD) is the most prevalent with no efficient treatment so far. …”
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Clinical and Molecular Spectrum of Glutamate Dehydrogenase Gene Defects in 26 Chinese Congenital Hyperinsulinemia Patients by Chang Su, Xue-Jun Liang, Wen-Jing Li, Di Wu, Min Liu, Bing-Yan Cao, Jia-Jia Chen, Miao Qin, Xi Meng, Chun-Xiu Gong

“…Eleven patients developed epilepsy at the age of 6 months to 11 years. De novo mutations in GLUD1 were found in 24 cases, and dominant inheritance was observed in the other two; all were heterozygous. …”
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Educational and health outcomes of schoolchildren in local authority care in Scotland: A retrospective record linkage study. by Michael Fleming, James S McLay, David Clark, Albert King, Daniel F Mackay, Helen Minnis, Jill P Pell

“…They were more likely to require treatment for epilepsy (AOR 1.50, 95% CI 1.27 to 1.78), attention deficit hyperactivity disorder (ADHD; AOR 3.01, 95% CI 2.76 to 3.27), and depression (AOR 1.90, 95% CI 1.62 to 2.22), be hospitalised overall (adjusted hazard ratio [AHR] 1.23, 95% CI 1.19 to 1.28) for injury (AHR 1.80, 95% CI 1.69 to 1.91) and self-harm (AHR 5.19, 95% CI 4.66 to 5.78), and die prematurely (AHR 3.21, 95% CI 2.16 to 4.77). …”
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Prenatal diagnosis of a compound heterozygous variation in the FBXL4 gene by trio-WES and imaging monitoring: a case report by Yujia Zhai, Yujia Zhai, Jing Chen, Jing Chen, Shuo Yang, Shuo Yang, He Wang, He Wang, Yuanyuan Xiao, Yuanyuan Xiao, Shanling Liu, Shanling Liu

“…A portion of patients may be accompanied by comorbidities such as cardiovascular diseases, epilepsy, ophthalmopathy, hearing impairment, and movement disorders. …”
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Cestode larvae excite host neuronal circuits via glutamatergic signalling by Anja de Lange, Hayley Tomes, Joshua S Selfe, Ulrich Fabien Prodjinotho, Matthijs B Verhoog, Siddhartha Mahanty, Katherine Ann Smith, William Horsnell, Chummy Sikasunge, Clarissa Prazeres da Costa, Joseph V Raimondo

“…It is the most prevalent parasitic infection of the central nervous system and one of the leading causes of adult-acquired epilepsy worldwide. However, little is known about how cestode larvae affect neurons directly. …”
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Hyperibone J exerts antidepressant effects by targeting ADK to inhibit microglial P2X7R/TLR4-mediated neuroinflammation by Ting Li, Yawei Li, Jinhu Chen, Miaomiao Nan, Xin Zhou, Lifang Yang, Wenjun Xu, Chao Zhang, Lingyi Kong

“…Adenosine kinase (ADK) is upregulated in epilepsy and depression and has been implicated in promoting neuroinflammation. …”
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Case Report: Diagnostic assessment, developmental trajectory and treatment approaches in a case of a complex neurodevelopmental syndrome associated with non- synonymous variants in... by V. Napoli, V. Napoli, S. Guerrera, F. Demaria, G. Piccolo, G. Piccolo, A. Cianfa, S. Passarini, S. Passarini, M. G. Logrieco, G. Zanni, G. Valeri, S. Vicari, S. Vicari

“…GABBR1 pathogenic variants have been recently associated with mild to severe psychomotor delay, epilepsy, intellectual disability (ID), autism (ASD), attention deficit hyperactivity disorder (ADHD) and oppositional defiant disorder (ODD).Material and methodsWe report a 13.9-year-old girl, with a complex neurodevelopmental disorder including ASD, ID with the appearance, at 9 years of age, of vocal and motor tics involving the upper limbs and trunk, suggesting a diagnosis of Tourette's syndrome (TS). …”
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Synthesis and Evaluation of a Novel Zuranolone Analog with High GABA_A Receptor PAM Activity and Excellent Pharmacokinetic Profiles by Yingjie Yang, Xu Deng, Hengwei Xu, Daoyuan Chen, Fengjuan Zhao, Huijie Yang, Wenyan Wang, Chunjie Sha, Mingxu Ma, Guanqing Zhang, Liang Ye, Jingwei Tian

“…The C21-pyridine-triazolone pharmacophore in <b>S9</b> enhances receptor activity potency without increasing lipophilicity, optimizing pharmacokinetics and safety, which makes it a promising therapeutic candidate for depression and epilepsy.…”
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GrpEL1 overexpression mitigates hippocampal neuron damage via mitochondrial unfolded protein response after experimental status epilepticus by Minjia Xie, Xin Wu, Xi Liu, Longyuan Li, Feng Gu, Xinyu Tao, Bingyi Song, Lei Bai, Di Li, Haitao Shen, Zongqi Wang, Wei Gao

“…Background: Despite the availability of various antiepileptic treatments, approximately 30 % of epilepsy patients remain refractory to conventional therapies, underscoring the need for neuroprotective strategies. …”
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Congenital toxoplasmosis: an observational retrospective study in the Eastern Sicily by Maria Teresa Garozzo, Rosaria Garozzo, Pasqua Betta, Salvatore Cilauro, Alessandro Saporito, Pietro D'Amico, Gabriella Tina, Angela Motta, Alfredo Pulvirenti, Salvatore Alaimo, Laura Sciuto, Basilio Pecorino, Manuela Ceccarelli, Guido Scalia, Tiziana Timpanaro, Martino Ruggieri, Agata Polizzi, Andrea D. Praticò

“…Manifestations included microcephaly (10%), intracranial abnormalities (19%), behavioral disturbances (4%), epilepsy (7%), and psychomotor delay (7%). Ophthalmological lesions were present in 21% at birth and 45% during follow-up; no cases of hearing loss were recorded. …”
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Mental disorders in antiphospholipid syndrome patients: association with clinical and immunological manifestations of the disease by А. В. Borisova, Т. А. Lisitsyna, D. Yu. Veltishchev, Т. М. Reshetnyak, О. F. Seravina, О. В. Kovalevskaya, F. А. Cheldieva, А. А. Abramkin, А. Е. Zeltyn, Е. L. Nasonov

“…Schizotypal disorder was identified only in patients with a high risk of thrombosis and positive anti-phosphatidylserine/prothrombin complex antibodies (aPS/PT) regardless of class, and also more often in patients with high IgG anti-β2 GP1. Epilepsy was observed only in patients with positive aPS/PT, regardless of class. …”
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Vaccination and its social and behavioural drivers in children with disability in Fiji by Susan Woolfenden, Nadia Badawi, Sarah Mcintyre, Israt Jahan, Gulam Khandaker, Kristine Macartney, Margie Danchin, Hayley Smithers-Sheedy, Donald Wilson, William May, Meru Sheel, Ilisapeci Tuibeqa, Rachel Devi, Litiana Volavola, Rosalie Power, Unise Vakaloloma, Sureni Perera, Lanieta Tuimabu

“…This study aimed to examine the vaccination status and measure the social and behavioural drivers influencing vaccination of children with disability in Fiji.Methods A cross-sectional survey was conducted in Suva–Nausori area, Rewa, Fiji among children with disabilities (eg, motor, vision, hearing, speech, intellectual, epilepsy) aged 2–19 years and their caregivers. Caregivers were interviewed using a questionnaire to collect data on sociodemographic, functional characteristics (UNICEF’s child-functioning tool), child’s vaccination status according to Fiji’s National Immunisation Programme (NIP), and drivers of vaccination using the WHO-UNICEF Behavioural and Social Drivers Tool. …”
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Pharmacovigilance analysis of polatuzumab plus bendamustine and rituximab treatment protocol: identifying comprehensive safety signals using FDA database by Fang Wu, Fang Wu, Siliang Wang, Siliang Wang, Xihui Xu, Weihui Zhang, Weihui Zhang, Jie Zhou, Jie Zhou, Runyan Niu, Runyan Niu, Wenting Cai, Wenting Cai, Yonggong Yang, Mengying Liu, Mengying Liu, Jinping Zhang, Jinping Zhang

“…Unexpected significant signals included intestinal obstruction, epilepsy, deep vein thrombosis, haemorrhage, increased blood lactate dehydrogenase and hypercalcemia.ConclusionOur study identified significant AE signals for pola+BR through realworld disproportionality analysis data and analyzed the severity and clinical priority of these signals, which can assist clinicians in managing related AEs.…”
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Development and validation of a multimodal automatic interictal epileptiform discharge detection model: a prospective multi-center study by Nan Lin, Lian Li, Weifang Gao, Peng Hu, Gonglin Yuan, Heyang Sun, Fang Qi, Lin Wang, Shengsong Wang, Zi Liang, Haibo He, Yisu Dong, Zaifen Gao, Xiaoqiu Shao, Liying Cui, Qiang Lu

“…Accurate automated IED detection models can facilitate epilepsy diagnosis. This study aims to develop a multimodal IED detection model (vEpiNetV2) and conduct a multi-center validation. …”
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Modeling and correction of protein conformational disease in iPSC-derived neurons through personalized base editing by Colin T. Konishi, Nancy Mulaiese, Tanvi Butola, Qinkun Zhang, Dana Kagan, Qiaoyan Yang, Mariel Pressler, Brooke G. Dirvin, Orrin Devinsky, Jayeeta Basu, Chengzu Long

“…Familial encephalopathy with neuroserpin inclusion bodies (FENIB) is a rare autosomal dominant progressive myoclonic epilepsy that progresses to dementia and premature death. …”
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Serum Vitamin D and B12 Levels in School-aged Children and Adolescents with Frequent Primary Headache Attacks by Gül Demet Kaya Özçora, Elif Söbü, Mehmet Canpolat, Fatih Kardaş, Mustafa Kendirci, Hakan Gümüş, Hüseyin Per, Sefer Kumandaş

“…Recent evidence suggests that various neurological disorders, including headaches, epilepsy, and neurodegenerative disorders, are associated with deficiencies in vitamins D and B12. …”
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Anesthesia for pregnant patients with symptomatic neurological disease: 13 years’ experience from a tertiary care center by Stefano Catarci, Bruno Antonio Zanfini, Marco Scorzoni, Salvatore De Martino, Pietro Paolo Giuri, Luciano Frassanito, Gian Luigi Gonnella, Emanuele Capone, Francesco Vitale Di Maio, Giovanni Maddaloni, Antonio Lanzone, Gaetano Draisci

“…The main neurological disorders that affected pregnant women included vascular abnormalities and intracranial bleeding (N = 42, 17.6%), central nervous system tumors (N = 35, 14.6%), epilepsy and episodic and paroxysmal disorders of the central nervous system (N = 34, 14.2%), diseases of the neuromuscular junction and muscles (N = 26, 10.9%), demyelinating central nervous system diseases (N = 24, 10%). …”
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Efficiency and safety of cannabinoid medical use: an analysis of discussions and observed trends on Instagram by Olena Litvinova, Olena Litvinova, Bikash Baral, Thomas Wochele-Thoma, Maima Matin, Nikolay T. Tzvetkov, Olga Adamska, Agnieszka Kamińska, Marcin Łapiński, Artur Stolarczyk, Atanas G. Atanasov, Atanas G. Atanasov

“…Instagram discussions about cannabinoid treatment support evidence from scientific studies about their effectiveness in treating a range of diseases, such as epilepsy with Lennox–Gastaut and Dravet syndromes, multiple sclerosis, cancer, and HIV-cachexia, nausea and vomiting caused by chemotherapy. …”
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In silico study of biological activity of 2-[5-(furan-2-yl)-4-phenyl-4n-1,2,4-triazol-3-ylthio]-1-(4-chlorophenylethanone) by N. M. Borysenko, I. V. Bushuyeva, V. V. Parchenko, O. P. Shmatenko, А. М. Solomennyi, O. K. Yerenko, O. P. Kileyeva

“…This enhances the prospects for further investigation of the compound in experimental epilepsy models and for the development of new anticonvulsant drugs based on it. …”
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Emergency EEG: study of survival EEG de urgência: taxa de sobrevivência by Moacir Alves Borges, Harethusa Junia Botós, Ricardo Funes Bastos, Moacir Fernandes Godoy, Nely Silvia Aragão de Marchi

“…The underlying disease was confirmed in 578 (84.3%) cases with 119 (17.5%) having liver disease [91 (76.0%) were men, p-value=0.001], 105 (15.4%) suffering strokes, 67 (9.9%) having metabolic disorders, 51 (7.5%) central nervous system infections and 49 (7.2%) epilepsy. In the three months following EEG, a survival rate of 75% was found in patients with normal, discreet slow activity or intermittent rhythmic delta activity EEGs, of 50% for those with continuous delta activity and generalized epileptiform discharges, and of 25% for those with burst-suppression, diffuse depression, and in alpha/theta-pattern coma. …”
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