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MPDZ variants associated with epilepsies and/or febrile seizures and the individualized genotype-phenotype correlation: 《Genes & Diseases》2024年第3期124-127,共4页Junxia Luo Yun Li Yong Lv Xin Li Bing Qin Chuanfang Cheng Xiaorong Liu Weiping Liao Jie Wang Zaifen Gao; funded by the National Natural Science Foundation of China(No.82201609);Shandong Medical and Health Science and Technology Development Plan(China)(No.202106010271);Scientific Research Project of Hunan Provincial Health Commission(China)(No.D202303077290);Guangdong Basic and Applied Basic Research Foundation(China)(No.2021A1515111064);Science and Technology Project of Guangzhou,Guangdong,China(No.202102021059,202201020106,202235395).; The multiple PDZ domain crumbs cell polarity complex component gene(MPDZ;MIM:603785),is highly expressed in the brain across the whole lifespan.It encodes the multiple PDZ domain protein,which is a member of the NMDAR...; 关键词：EPILEPSY FEBRILE CONGENITAL

Genetic mechanisms in generalized epilepsies被引量：1: 《Acta Epileptologica》2023年第1期1-13,共13页Xiaoqian Wang Xueyi Rao Jia Zhang Jing Gan; Funding This work was supported by the National Natural Science Foundation of China(No.82071686);the Grant from Science and Technology Bureau of Sichuan province(No.2021YFS0093);the Grant from Research Fund of West China Second University Hospital(No.KL115,KL072);Graduate Education and Teaching Reform research project of Sichuan University(GSSCU2021156).; The genetic generalized epilepsies(GGEs)have been proved to generate from genetic impact by twin studies and family studies.The genetic mechanisms of generalized epilepsies are always updating over time.Although the g...; 关键词：Genetic generalized epilepsies Genetic mechanism Susceptibility gene Copy number variations

Qualitative evaluation of the outcomes of care and treatment for children and adolescents with nodding syndrome and other epilepsies in Uganda被引量：1: 《Infectious Diseases of Poverty》2019年第2期93-93,共1页Catherine Abbo Amos Deogratius Mwaka Bernard Toliva Opar Richard Idro; Background:In 2012,the Ugandan Government declared an epidemic of Nodding Syndrome(NS)in the Northern districts of Gulu,Kitgum,Lamwo and Pader.Treatment guidelines were developed and NS treatment centres were establis...; 关键词：Nodding syndrome EPILEPSY MULTI-DISCIPLINARY Clinical audit Clinical support supervision Uganda

Ictal semiology,functional anatomy and multimodal diagnostic in patients with insular epilepsies被引量：1: 《Acta Epileptologica》2019年第1期49-58,共10页Hermann Stefan Stephanie Gollwitzer; Background:The insula is a hidden part in the cerebral cortex.Insular epilepsy is underrecognized and it bears a special risk for misdiagnosis with regard to nonepileptic seizures or wrong localization of epileptic se...; 关键词：Insular epilepsy Ictal semiology Source localization MEG/EEG SEEG

Correction to:Ictal semiology,functional anatomy and multimodal diagnostic in patients with insular epilepsies: 《Acta Epileptologica》2019年第1期59-61,共3页Hermann Stefan Stephanie Gollwitzer

Cases with parietal and occipital lobe epilepsies被引量：1: 《Acta Epileptologica》2019年第1期31-36,共6页Hermann Stefan; Background:For seizures emerging from the posterior cortex it can be a challenge to differentiate if they belong to temporal,parietal or occipital epilepsies.Sensoric auras like visual phenomena may occur in all of th...; 关键词：Parietal-occipital lobe epilepsy Posterior cortex Diagnosis and treatment

Identification of a Novel Homozygous Splice-Site Mutation in SCARB2 that Causes Progressive Myoclonus Epilepsy with or without Renal Failure被引量：1: 《Chinese Medical Journal》2018年第13期1575-1583,共9页Jin He Han Lin Jin-Jing Li Hui-Zhen Su Dan-Ni Wang Yu Lin Ning Wang Wan-Jin Chen; This work was supported by the grants from the National Natural Science Foundation of China （No. U1505222, No, 81322017, No. 81500980, and No. 81571100） and the National Key Clinical Specialty Discipline Construction Program and Key Clinical Specialty Discipline Construction Program of Fujian.; Background： Progressive myoclonus epilepsies （PMEs） conaprise a group of rare genetic disorders characterized by action rnyoclonus, epileptic seizures, and ataxia with progressive neurologic decline. Due to clinica...; 关键词：Progressive Myoclonus Epilepsies Progressive Myoclonus Epilepsy with or without Renal Failure SCARB2 Gene Targeted Next-Generation Sequencing

The Hypothesis of Hyperia from the Perspective of Neuronal Plasticity: 《Open Journal of Medical Psychology》2016年第1期17-26,共10页Javier Álvarez-Rodríguez; We analyze certain mental automatisms appearing in the consciousness with phenomenological features of simple partial seizures (SPSs). We propose to include all these phenomena into a cognitive function to which we te...; 关键词：Bipolar Disorder GLUTAMATE Partial Seizures RDoC REPETITION Reflex Epilepsies SCHIZOPHRENIA

Hypersynchronic Mental Automatisms: An Innovative Psychiatric Hypothesis Reaffirming Its Validity for Fifteen Years: 《Health》2015年第1期41-51,共11页Javier Alvarez-Rodriguez; This paper deals with certain psychic automatisms that are usually diagnosed as psychiatric symptoms or as simple partial seizures. These mental automatisms are described in many writings by mystics, philosophers, lit...; 关键词：Bipolar Disorder GLUTAMATE Hippocampus Learning Long-Term POTENTIATION SCHIZOPHRENIA REFLEX EPILEPSIES

Psychic Neuronal Hypersynchronies: A New Psychiatric Paradigm?被引量：1: 《Health》2014年第16期2089-2099,共11页Javier Alvarez-Rodriguez; This paper deals with certain psychic automatisms that appear suddenly in the consciousness of the subject in a passive or automatic way and that usually are diagnosed as psychiatric symptoms or manifestations of an e...; 关键词：Glutamate Hypothesis of Schizophrenia KINDLING Learning Long Term POTENTIATION Memory MYSTICISM Neuropsychopharmacological Drugs Partial Seizures REFLEX EPILEPSIES

EPILEPSIES