MPDZ variants associated with epilepsies and/or febrile seizures and the individualized genotype-phenotype correlation  

作　　者：Junxia Luo Yun Li Yong Lv Xin Li Bing Qin Chuanfang Cheng Xiaorong Liu Weiping Liao Jie Wang Zaifen Gao 

机构地区：[1]Department of Epilepsy Center,Children's Hospital Affiliated to Shandong University,Jinan,Shandong 250022,China [2]Department of Epilepsy Center,Jinan Children's Hospital,Jinan,Shandong 250022,China [3]Department of Brain Function and Neuroelectrophysiology,The Affiliated Nanhua Hospital,Hengyang Medical School,University of South China,Hengyang,Hunan 421001,China [4]Department of Pediatrics,The First Affiliated Hospital of University of Science and Technology of China(Anhui Provincial Hospital),Hefei,Anhui 230001,China [5]Department of Pediatrics,The Second Hospital,Cheeloo College of Medicine,Shandong University,Jinan,Shandong 250033,China [6]Epilepsy Center and Department of Neurosurgery,The First Affliated Hospital of Jinan University,Guangzhou,Guangdong 510630,China [7]Department of Cardiology,The Second Afiliated Hospital of Guangzhou Medical University,Guangzhou,Guangdong 510260,China [8]Institute of Neuroscience and Department of Neurology of the Second Affiliated Hospital of Guangzhou Medical University,Guangzhou,Guangdong 510260,China [9]Key Laboratory of Neurogenetics and Channelopathies of Guangdong Province and the Ministry of Education of China,Guangzhou,Guangdong 510260,China

出　　处：《Genes & Diseases》2024年第3期124-127,共4页基因与疾病（英文）

基　　金：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).

摘　　要：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 signaling complex that may play a role in the control of AMPAR potentiation and synaptic plasticity in excitatory synapses."Previously,MPDZ variants have been demonstrated to be associated with autosomal recessive congenital hydrocephalus-2(HYC2;MIM:615219)which is commonly complicated by brain abnormalities and developmental delay.Seizures were reported in only one case.The association between MPDz and epilepsy requires clarification.

关 键 词：EPILEPSY FEBRILE CONGENITAL 

分 类 号：R742.1[医药卫生—神经病学与精神病学]