{"title":"ATP1A3 交替性偏瘫","authors":"M. P. Afanasyeva, E. D. Belousova, A. A. Sharkov","doi":"10.30629/2658-7947-2024-29-1-19-24","DOIUrl":null,"url":null,"abstract":"Alternating hemiplegia (AH) is a rare and little researched disease. AH is characterized with early episodes of hemiplegia (from a few minutes to a few days), abnormal movements and cognition, and probable development of neurological defi ciency. Studies of genetic basis have led to discovery of mutations in gen ATP1A3, which codes alfa-3 subunit of Na+/K+-ATPase. For research, genetic data are considered most important prognostic information. Its diagnostics is diffi cult due to similarity of some symptoms to epilepsy and absence of deviations at neuro-visualisation. This article is an attempt to generalize world scientifi c experience and to determine most important research derections.","PeriodicalId":36724,"journal":{"name":"Russian Neurological Journal","volume":"48 5","pages":""},"PeriodicalIF":0.0000,"publicationDate":"2024-03-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"ATP1A3-alternating hemiplegia\",\"authors\":\"M. P. Afanasyeva, E. D. Belousova, A. A. Sharkov\",\"doi\":\"10.30629/2658-7947-2024-29-1-19-24\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Alternating hemiplegia (AH) is a rare and little researched disease. AH is characterized with early episodes of hemiplegia (from a few minutes to a few days), abnormal movements and cognition, and probable development of neurological defi ciency. Studies of genetic basis have led to discovery of mutations in gen ATP1A3, which codes alfa-3 subunit of Na+/K+-ATPase. For research, genetic data are considered most important prognostic information. Its diagnostics is diffi cult due to similarity of some symptoms to epilepsy and absence of deviations at neuro-visualisation. This article is an attempt to generalize world scientifi c experience and to determine most important research derections.\",\"PeriodicalId\":36724,\"journal\":{\"name\":\"Russian Neurological Journal\",\"volume\":\"48 5\",\"pages\":\"\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2024-03-11\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Russian Neurological Journal\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.30629/2658-7947-2024-29-1-19-24\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q4\",\"JCRName\":\"Medicine\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Russian Neurological Journal","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.30629/2658-7947-2024-29-1-19-24","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"Medicine","Score":null,"Total":0}
Alternating hemiplegia (AH) is a rare and little researched disease. AH is characterized with early episodes of hemiplegia (from a few minutes to a few days), abnormal movements and cognition, and probable development of neurological defi ciency. Studies of genetic basis have led to discovery of mutations in gen ATP1A3, which codes alfa-3 subunit of Na+/K+-ATPase. For research, genetic data are considered most important prognostic information. Its diagnostics is diffi cult due to similarity of some symptoms to epilepsy and absence of deviations at neuro-visualisation. This article is an attempt to generalize world scientifi c experience and to determine most important research derections.