{"title":"ADAM22双等位基因突变在印度家庭中表现为大田原综合征:扩展ADAM22相关神经系统疾病的电临床表型","authors":"Prateek Kumar Panda, Achanya Palayullakandi, Diksha Gupta, Suthiraj Sopanam, Anand Santosh Mishra, Indar Kumar Sharawat","doi":"10.4103/aian.aian_706_24","DOIUrl":null,"url":null,"abstract":"","PeriodicalId":8036,"journal":{"name":"Annals of Indian Academy of Neurology","volume":" ","pages":""},"PeriodicalIF":1.9000,"publicationDate":"2025-01-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Biallelic Mutations in ADAM22 Presenting as Ohtahara Syndrome in an Indian Family: Expanding the Electroclinical Phenotype of ADAM22-Related Neurologic Disorder.\",\"authors\":\"Prateek Kumar Panda, Achanya Palayullakandi, Diksha Gupta, Suthiraj Sopanam, Anand Santosh Mishra, Indar Kumar Sharawat\",\"doi\":\"10.4103/aian.aian_706_24\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"\",\"PeriodicalId\":8036,\"journal\":{\"name\":\"Annals of Indian Academy of Neurology\",\"volume\":\" \",\"pages\":\"\"},\"PeriodicalIF\":1.9000,\"publicationDate\":\"2025-01-08\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Annals of Indian Academy of Neurology\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.4103/aian.aian_706_24\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q3\",\"JCRName\":\"CLINICAL NEUROLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Annals of Indian Academy of Neurology","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.4103/aian.aian_706_24","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"CLINICAL NEUROLOGY","Score":null,"Total":0}
Biallelic Mutations in ADAM22 Presenting as Ohtahara Syndrome in an Indian Family: Expanding the Electroclinical Phenotype of ADAM22-Related Neurologic Disorder.
期刊介绍:
The journal has a clinical foundation and has been utilized most by clinical neurologists for improving the practice of neurology. While the focus is on neurology in India, the journal publishes manuscripts of high value from all parts of the world. Journal publishes reviews of various types, original articles, short communications, interesting images and case reports. The journal respects the scientific submission of its authors and believes in following an expeditious double-blind peer review process and endeavors to complete the review process within scheduled time frame. A significant effort from the author and the journal perhaps enables to strike an equilibrium to meet the professional expectations of the peers in the world of scientific publication. AIAN believes in safeguarding the privacy rights of human subjects. In order to comply with it, the journal instructs all authors when uploading the manuscript to also add the ethical clearance (human/animals)/ informed consent of subject in the manuscript. This applies to the study/case report that involves animal/human subjects/human specimens e.g. extracted tooth part/soft tissue for biopsy/in vitro analysis.