Article
Clinical Neurology
Yu Gu, Daoqi Mei, Xiaona Wang, Ang Ma, Jinghui Kong, Yaodong Zhang
Summary: This study used whole-exome sequencing to diagnose seven patients with benign familial infantile epilepsy (BFIE) and analyzed their clinical phenotypes and genetic characteristics. The results showed that the main clinical phenotype of these patients was focal or generalized tonic-clonic seizures, which could be well controlled by anti-seizure medication. Genetic analysis identified mutations in the PRRT2 gene in three patients, including one previously unreported variant. Therefore, whole-exome sequencing is an effective method for diagnosing BFIE and expanding our understanding of the genetic basis of the condition.
FRONTIERS IN NEUROLOGY
(2023)
Review
Biochemistry & Molecular Biology
Krzysztof Lukawski, Stanislaw J. Czuczwar
Summary: Free radicals are generated in the brain and other organs, and their production is related to brain activity. The brain is particularly vulnerable to free radical damage due to its low antioxidant capacity, which can affect lipids, nucleic acids, and proteins. Oxidative stress plays a role in neuronal death and the development of epilepsy, and this review examines free radical generation in animal models of seizures and epilepsy, as well as the consequences of oxidative stress and the potential use of antioxidant drugs in patients with epilepsy.
Article
Clinical Neurology
Samuel F. Berkovic, Pasquale Striano, Shoji Tsuji
Summary: Familial adult myoclonus epilepsy/benign adult familial myoclonic epilepsy (FAME/BAFME) is a specific and recognizable epilepsy syndrome with autosomal dominant inheritance. Initially, it was confused with other familial myoclonus epilepsies but was later recognized as a distinct syndrome in Japan. Families with this syndrome were subsequently identified worldwide, and it was found to be caused by pentanucleotide expansions in at least six genes. The phenotype varies within and between families, mainly due to expansion size.
Review
Clinical Neurology
Naoum P. P. Issa, Katherine C. C. Nunn, Shasha Wu, Hiba A. A. Haider, James X. X. Tao
Summary: Homeostatic plasticity allows neural circuits to maintain activity levels and learn new associations, but can also contribute to seizures in certain conditions. Understanding the active homeostatic mechanisms in different stages of development and circuits can help target therapies and disrupt the cycle of recurring seizure clusters.
Article
Clinical Neurology
Qiaoyan Shao, Xiaorong Shi, Bihong Ma, Jiabin Zeng, Aidong Zheng, Wenhuang Xie
Summary: This study reports a case of familial infantile myoclonic epilepsy caused by a homozygous TBC1D24 mutation. Long-term clinical follow-up not only enriches the clinical phenotype of the disease, but also provides clinical experience for early diagnosis and treatment of the disease.
Article
Clinical Neurology
Premysl Jiruska, Dean Freestone, Vadym Gnatkovsky, Yujiang Wang
Summary: The theory of seizures beget seizures suggests that seizure activity can contribute to the progression of epilepsy. However, existing data and observations both support and oppose this theory. While recurrent seizures can cause negative changes in brain structure and function, other factors may also play a role in epilepsy progression.
Article
Clinical Neurology
Alberto Cossu, Joana L. L. Santos, Giulia Galati, Marina Nikanorova, Paola Costa, Yuan Mang, Asli Silahtaroglu, Guido Rubboli, Niels Tommerup, Bernardo Dalla Bernardina, Rikke S. S. Moller, Gaetano Cantalupo, Elena Gardella
Summary: This study reports two unrelated families with benign familial infantile seizures (BFIS) evolving to encephalopathy related to status epilepticus during sleep (ESES). Whole-exome sequencing revealed a frameshift mutation in the PRRT2 gene in both probands and affected family members. The mechanism and phenotypic variability of PRRT2 variants in epilepsy remain poorly understood.
NEUROLOGICAL SCIENCES
(2023)
Article
Neurosciences
Lise Heylen, Duc-Hung Pham, Ann-Sofie De Meulemeester, Eric Samarut, Adrianna Skiba, Danielle Copmans, Youcef Kazwiny, Pieter Vanden Berghe, Peter A. M. de Witte, Aleksandra Siekierska
Summary: Zebrafish present a novel model for epilepsy research, offering unique insights for studying epileptogenic processes in vivo and suitable for high-throughput AED screening and rapid genetic investigations.
FRONTIERS IN MOLECULAR NEUROSCIENCE
(2021)
Article
Clinical Neurology
P. H. Espino, R. G. Couper, J. G. Burneo
Summary: Neurocysticercosis (NCC) is a global public health problem and a preventable cause of epilepsy in developing countries. Epileptic seizures are the most common manifestation of NCC and can occur at any stage of the disease. The exact mechanisms underlying NCC-related epilepsy are still poorly understood, with potential explanations including direct causality, initial injury, external factors, and coincidence.
CLINICAL NEUROLOGY AND NEUROSURGERY
(2022)
Article
Behavioral Sciences
F. S. Borges, E. C. Gabrickc, P. R. Protachevicz, G. S. V. Higa, E. L. Lameu, P. X. R. Rodriguez, M. S. A. Ferraz, J. D. Szezech Jr, A. M. Batista, A. H. Kihara
Summary: Neuronal synchronization is crucial for brain communication and learning, but changes in connectivity can lead to hyper-synchronized states associated with epileptic seizures. The ARC protein is linked to synaptic alterations and epilepsy. Intense ARC immunoreactive neurons (IAINs) with increased connectivity and conductance are observed during status epilepticus, potentially contributing to abnormal seizure activity. This study investigates how IAINs connectivity influences firing patterns and synchronization. Synchronized burst patterns and intermittent up and down activities are observed in neural networks with increased IAINs connectivity. Optogenetics control effectively suppresses synchronized bursts when IAINs are targeted, highlighting their important role in both generating and suppressing highly synchronous activities.
EPILEPSY & BEHAVIOR
(2023)
Article
Multidisciplinary Sciences
Isra Tamim, David Y. Chung, Andreia Lopes de Morais, Inge C. M. Loonen, Tao Qin, Amrit Misra, Frieder Schlunk, Matthias Endres, Steven J. Schiff, Cenk Ayata
Summary: The study demonstrates a reciprocal relationship between spreading depression and seizures in an animal model, showing that seizures trigger spreading depression, which then terminates the seizure and prevents its generalization.
NATURE COMMUNICATIONS
(2021)
Article
Neurosciences
Doodipala Samba Reddy, Robert H. Mbilinyi, Sreevidhya Ramakrishnan
Summary: At present, there is no drug therapy available for curing epilepsy. However, recent research has shown the potential of cannabidiol (CBD) in controlling epileptogenesis and reducing seizure burden. CBD can also be used in combination with other antiseizure medications, indicating strong potential as an adjunct therapy.
EXPERIMENTAL NEUROLOGY
(2023)
Article
Clinical Neurology
Arturo Carpio, Matthew L. Romo, W. Allen Hauser, Elizabeth A. Kelvin
Summary: Neurocysticercosis can cause acute symptomatic seizures that may or may not develop into epilepsy. Antiparasitic treatment can reduce focal seizures, but does not affect the transition to epilepsy caused by calcification of the cysts.
SEIZURE-EUROPEAN JOURNAL OF EPILEPSY
(2021)
Article
Clinical Neurology
Aurelie Hanin, Jorge Cespedes, Karim Dorgham, Yashwanth Pulluru, Margaret Gopaul, Guy Gorochov, David A. Hafler, Vincent Navarro, Nicolas Gaspard, Lawrence J. Hirsch
Summary: The study aims to investigate inflammation in patients with new-onset refractory status epilepticus (NORSE) by analyzing cytokines/chemokines in cerebrospinal fluid (CSF) and serum. Significant increase of pro-inflammatory cytokines/chemokines was observed in patients with SE compared to those without, and in patients with cNORSE compared to non-cryptogenic RSE. Elevated innate immunity cytokine/chemokine levels were associated with worse short- and long-term outcomes in patients with NORSE.
ANNALS OF NEUROLOGY
(2023)
Article
Biochemistry & Molecular Biology
R. Asadollahi, I Delvendahl, R. Muff, G. Tan, D. G. Rodrieguez, S. Turan, M. Russo, B. Oneda, P. Joset, P. Boonsawat, R. Masood, M. Mocera, I. Ivanovski, A. Baumer, R. Bachmann-Gagescu, R. Schlapbach, H. Rehrauer, K. Steindl, A. Begemann, A. Reis, J. Winkler, B. Winner, M. Mueller, A. Rauch
Summary: Pathogenic variants in SCN2A cause epilepsy or intellectual disability/autism. We investigated iPSC-derived neurons from patients with diverse SCN2A variants and found that ID neurons had lower Na(V)1.2 levels and impaired sodium current density, while epilepsy neurons showed impaired sodium channel inactivation. Single-cell transcriptomics revealed dysregulation of specific molecular pathways in both types of neurons.
HUMAN MOLECULAR GENETICS
(2023)
Article
Oncology
Yan Song, Dan Liu, Guoping He
Article
Medicine, General & Internal
Ling-Li Zeng, Lili Long, Hui Shen, Peng Fang, Yanmin Song, Linlin Zhang, Lin Xu, Jian Gong, Yunci Zhang, Yong Zhang, Bo Xiao, Dewen Hu
Article
Medicine, General & Internal
Yanmin Song, Huarong Liu, Lili Long, Ning Zhang, Yunhai Liu
Article
Oncology
Guoshuai Yang, Yanmin Song, Xiaoyan Zhou, Yidong Deng, Tao Liu, Guohu Weng, Dan Yu, Suyue Pan
MOLECULAR MEDICINE REPORTS
(2015)
Editorial Material
Clinical Neurology
Lili Long, Yanmin Song, Lin Xu, Bo Xiao
Article
Clinical Neurology
Lili Long, Ling-Li Zeng, Yanmin Song, Hui Shen, Peng Fang, Linlin Zhang, Lin Xu, Jian Gong, Yun-Ci Zhang, Yong Zhang, Pinting Zhou, Sha Huang, Si Chen, Yuanyuan Xie, Dewen Hu, Bo Xiao
Article
Multidisciplinary Sciences
Lili Long, Lin Xu, Zhenghui Xiao, Shixiong Hu, Ruping Luo, Hua Wang, Xiulan Lu, Zhiyue Xu, Xu Yao, Luo Zhou, Hongyu Long, Jiaoe Gong, Yanmin Song, Li Zhao, Kaiwei Luo, Mengqi Zhang, Li Feng, Liming Yang, Xiaoqi Sheng, Xuegong Fan, Bo Xiao
SCIENTIFIC REPORTS
(2016)
Article
Medicine, Research & Experimental
Yanmin Song, Shuai Yao, Yunhai Liu, Lili Long, Huan Yang, Qiuxiang Li, Jinghui Liang, Xinxin Li, Yuling Lu, Haoran Zhu, Ning Zhang
EXPERIMENTAL AND THERAPEUTIC MEDICINE
(2017)
Article
Oncology
Guoshuai Yang, Yanmin Song, Xiaoyan Zhou, Yidong Deng, Tao Liu, Guohu Weng, Dan Yu, Suyue Pan
MOLECULAR MEDICINE REPORTS
(2015)
Article
Medicine, Research & Experimental
Yanmin Song, Yunhai Liu, Ning Zhang, Lili Long
EXPERIMENTAL AND THERAPEUTIC MEDICINE
(2015)
Article
Medicine, Research & Experimental
Lili Long, Xuehui Qin, Yanmin Song, Linlin Zhang, Nan Gai, Lin Xu, Jian Gong, Yong Zhang, Hongyu Long, Luo Zhou, Pinting Zhou, Sha Huang, Lingqian Wu, Bo Xiao
INTERNATIONAL JOURNAL OF CLINICAL AND EXPERIMENTAL MEDICINE
(2016)
Article
Medicine, Research & Experimental
Guoshuai Yang, Xiaoyan Zhou, Tao Chen, Yidong Deng, Dan Yu, Suyue Pan, Yanmin Song
INTERNATIONAL JOURNAL OF CLINICAL AND EXPERIMENTAL MEDICINE
(2015)
Article
Clinical Neurology
Lili Long, Yanmin Song, Linlin Zhang, Chongyu Hu, Jian Gong, Lin Xu, Hongyu Long, Luo Zhou, Yunci Zhang, Yong Zhang, Bo Xiao
NEUROPSYCHIATRIC DISEASE AND TREATMENT
(2015)
Article
Clinical Neurology
Yanmin Song, Qunfang Li, Lili Long, Ning Zhang, Yunhai Liu
NEUROPSYCHIATRIC DISEASE AND TREATMENT
(2015)
Article
Medicine, Research & Experimental
Yanmin Song, Ranran Zhao, Lili Long, Ning Zhang, Yunhai Liu
INTERNATIONAL JOURNAL OF CLINICAL AND EXPERIMENTAL MEDICINE
(2014)