EPILEPSY

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Developmental coordination disorder and epilepsy
《World Journal of Pediatrics》2025年第1期1-2,共2页Maria Esposito Rosangela Santomauro Giovanni Battista Dell’Isola Maria Ruberto Alberto Verrotti Margherita Siciliano Marco Carotenuto 
The developmental coordination disorder(DCD)is characterized by an impaired motor coordination skill for age impacting day-life motor activities and academic achievement of children.DCD has been classified as neurodev...
关键词：EPILEPSY neurodevelopmental disorder developmental coordination disorder developmental coordination disorder dcd impaired motor coordination skill motor skills dual stream hypothesis separation cerebral pathways 
Recent advances and current status of gene therapy for epilepsy
《World Journal of Pediatrics》2024年第11期1115-1137,共23页Ao-Jje Cai Kai Gao Fan Zhangg Yu-Wu Jiang 
supported by the National Natural Science Foundation of China(grant number:U22A20339,82171435,81971211,81601131);by the National Key Research and Development Program of China(grant number:2020YFA0804000);by Key Project of Clinical Medicine Research of National Clinical Research Center for Child Health and Disorders,Children’s Hospital of Chongqing Medical University(grant number:NCRCCHD-2021-KP-02);by Beijing Natural Science Foundation(grant number:7212109);by the capital health research and development of special(2020-1-4071);by the Beijing Key Laboratory of Molecular Diagnosis and Study on Pediatric Genetic Diseases(grant number:BZ0317);by the Fundamental Research Funds for the Central Universities(grant number:BMU2017JI002,BMU2018XY006,PKU2017LCX06);by the Henan Province science and technology joint construction project(LHGJ20230224).
Background Epilepsy is a common neurological disorder with complex pathogenic mechanisms,and refractory epilepsy often lacks effective treatments.Gene therapy is a promising therapeutic option,with various preclinical...
关键词：CHALLENGES CRISPR EPILEPSY Gene therapy STRATEGY 
Attention deficit hyperactivity disorder in children with epilepsy:a multicenter cross-sectional analysis in China被引量：1
《World Journal of Pediatrics》2024年第10期1070-1078,共9页Gang Pan Ying Han Tian-Cheng Wang Zi-Yi Chen Xiang-Qing Wang Hong-Bin Sun Yong-Hong Liu Qun Wang Wei-Hong Lin Jin-Mei Li Shui-Zhen Zhou Yue-Hua Zhang 
Background The diagnosis and treatment of attention deficit hyperactivity disorder(ADHD)comorbid with epilepsy have been insufficiently addressed in China.We conducted a study in China to investigate the current statu...
关键词：Attention deficit hyperactivity disorder CHILDREN China EPILEPSY ELECTROENCEPHALOGRAM 
ARHGAP4 variants are associated with X-linked early-onset temporal lobe epilepsy被引量：1
《World Journal of Pediatrics》2024年第8期859-867,共9页Yuan-Yuan Hu Wang Song Zhi-Gang Liu Xing-Guang Ye Hong-Wei Zhang Xin Li Jun-Xia Luo Peng-Yu Wang Jie Wang Xiao-Fei Lin Hong-Li Zhu Wei-Ping Liao Bin Li Xu-Qin Chen 
funded by the National Natural Science Foundation of China(Grant No.82301639 to Bin Li,Grant No.82171441 to Xu-Qin Chen,and Grant No.82201609 to Jie Wang).
The ARHGAP4 gene(OMIM*300,023),also known as Rho GTPase activating protein 4,encodes a protein that has an essential role in the regulation of small GTP-binding.ARHGAP4 message RNA(mRNA)is highly expressed during the ...
关键词：EPILEPSY alterations STRATUM 
Ketogenic diet therapy in children with epilepsy caused by SLC2A1 mutations:a single-center single-arm retrospective study
《World Journal of Pediatrics》2024年第5期517-524,共8页Ying-Yan Wang Yun-Qing Zhou Li-Juan Luo Cui-Jin Wang Nan Shen Hao Li Ji-Wen Wang 
supported by grants from National Key R&D Program of China(2019YFA0801900);Epilepsy Research Fund of China Association Against Epilepsy(CJ-B-2021-21);The Interdisciplinary Program of Shanghai Jiao Tong University(YG2021QN108);Emerging Frontier Technology Project of Shanghai Hospital(SHDC12015113);Research Funds of Shanghai Health and Family Planning Commission(20204Y0339);Shanghai Hospital Development Center Foundation(SHDC12022626,SHDC2022CRS052);Shanghai“Rising Stars of Medical Talent”Youth Development Program-Youth Medical Talents-Clinical Pharmacist Program(SHWRS(2020)_087);Innovative Research Team of High-level Local Universities in Shanghai(SHSMU-ZDCX20212800).
Background This retrospective study assessed the efficacy and safety of ketogenic diet therapies in children with epilepsy caused by SLC2A1 genetic mutations and glucose transporter type 1 deficiency syndrome.Methods ...
关键词：EPILEPSY Glucose transporter type 1 Ketogenic diet SLC2A1 
PACS gene family-related neurological diseases: limited genotypes and diverse phenotypes
《World Journal of Pediatrics》2024年第1期82-91,共10页Han Zhang Kai Gao Shuang Wang Yue-Hua Zhang Zhi-Xian Yang Ye Wu Yu-Wu Jiang 
supported by the National Key Research and Development Program of China(No.2020YFA0804000);the National Natural Science Foundation of China(Nos.81971211,12026606,and 81601131);Key Project of Clinical Medicine Research of National Clinical Research Center for Child Health and Disorders,Children's Hospital of Chongqing Medical University(No.NCRCCHD-2021-KP-02);Beijing Natural Science Foundation(No.7212109);the Beijing Key Laboratory of Molecular Diagnosis and Study on Pediatric Genetic Diseases(No.BZ0317);the Capital Health Research and Development of Special Fund(No.2020-1-4071);National High Level Hospital Clinical Research Funding(Scientific Research Seed Fund of Peking University First Hospital)(No.2022SF29);the Fundamental Research Funds for the Central Universities(Nos.BMU2017JI002,BMU2018XY006,and PKU2017LCX06)。
Background The PACS gene family has been demonstrated to be related to intracellular vesicular trafficking.The phenotypic manifestations caused by the pathogenic variants of PACS include epilepsy,intellectual disabili...
关键词：Developmental delay EPILEPSY Intellectual disability PACSI PACS2 
Efficacy of perampanel as an adjunctive therapy in pediatric focal epilepsy
《World Journal of Pediatrics》2023年第11期1111-1114,共4页Wei‑Ran Zhang Liu Liu Lu Xu Yi Hua Xiao‑Jun Su Pei‑Fang Jiang Zhe‑Feng Yuan Feng Gao 
Epilepsy is the most common neurological disease,affecting approximately 50 million people worldwide[1].Many novel antiepileptic drugs(AEDs)displaying diverse mechanisms of action have been introduced[2].Although newe...
关键词：DRUGS EPILEPSY AEDS 
Genotypic and phenotypic spectra of NBEA-related neurodevelopmental disorder with epilepsy:a case series and literature review
《World Journal of Pediatrics》2022年第9期636-641,共6页Zou Pan Chen Chen Fei Yin Jing Peng 
study was funded in part by the National Natural Science Foundation of China(Grant no.81771409 and 82071462);Natural Science Foundation of Hunan Province(Grant no.2021JJ40969).
NBEA(MIM#604,889)is a novel disease causative gene that responds for neurodevelopment disorder with or without generalized epilepsy(NEDEGE,MIM#619,157).It encodes neurobeachin protein,a multi-domain neuro-specific sca...
关键词：EPILEPSY structure. 
Imipramine-precipitated status epilepticus
《World Journal of Pediatrics》2021年第2期218-219,共2页Ahmed Naguy 
Frontal lobe epilepsy has a complex and atypical semiology that may masquerade as psychiatric or parasomnias[1].An electroencephalography(EEG)and sleep lab workup should be an integral part of clinical assessment of t...
关键词：EPILEPSY CLINICAL epileptic 
Consecutive occurrence of benign epilepsy with centro-temporal spike and childhood absence epilepsy: true coexistence or atypical evolution?
《World Journal of Pediatrics》2018年第4期410-411,共2页Eun Hye Lee Hoi Soo Yoon 
We read with great interest the recent review of benign epilepsy with centro-temporal spikes (BECTS) and child-hood absence epilepsy (CAE) by Verrotti et al. (1)BECTS and CAE are the most common epilepsy syndromes in ...
关键词：Consecutive OCCURRENCE benign EPILEPSY centro-temporal SPIKE childhood EPILEPSY TRUE COEXISTENCE ATYPICAL evolution 
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