CAPOS syndrome and hemiplegic migraine in a novel pedigree with the specific ATP1A3 mutation

Potic Ana; Nmezi Bruce; Padiath Quasar S.

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CAPOS syndrome and hemiplegic migraine in a novel pedigree with the specific ATP1A3 mutation

机译：Capos综合征和偏瘫偏头痛，具有特定ATP1A3突变的新型血统

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摘要

Objective: Identification and characterization of a novel pedigree with ATP1A3 mutations presenting with CAPOS syndrome and hemiplegic migraine.

机译：目的：用CAPOS综合征和偏头突发的ATP1A3突变的鉴定与表征。

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来源
《Journal of the Neurological Sciences: Official Bulletin of the World Federation of Neurology 》 |2015年第2期| 共4页
作者
Potic Ana; Nmezi Bruce; Padiath Quasar S.;
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作者单位

Univ Belgrade Fac Med Dept Neurol Clin Child Neurol &

Psychiat Belgrade 11000 Serbia;

Univ Pittsburgh Grad Sch Publ Hlth Dept Human Genet Pittsburgh PA 15261 USA;

Univ Pittsburgh Grad Sch Publ Hlth Dept Human Genet Pittsburgh PA 15261 USA;

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原文格式 PDF
正文语种 eng
中图分类神经病学 ;
关键词
Ataxia; Cerebellum; Migraine; ATP1A3 gene; Channelopathies; Episodic encephalopathy; Fever;

机译：共济失调;小脑;偏头痛;ATP1A3基因;通道病;情节脑病;发烧;

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专利

1. CAPOS syndrome and hemiplegic migraine in a novel pedigree with the specific ATP1A3 mutation [J] . Potic Ana, Nmezi Bruce, Padiath Quasar S. Journal of the Neurological Sciences: Official Bulletin of the World Federation of Neurology . 2015 ,第1a2期

机译：Capos综合征和偏瘫偏头痛，具有特定ATP1A3突变的新型血统
2. Further characterization of CAPOS/CAOS syndrome with the Glu818Lys mutation in the ATP1A3 gene: A case report [J] . Hayashida Takuya, Saito Yoshiaki, Ishii Atsushi, Brain & Development . 2018 ,第7期

机译：在ATP1A3基因中的GLU818突变对CAPO / CAOS综合征的进一步表征：案例报告
3. Further characterization of CAPOS/CAOS syndrome with the Glu818Lys mutation in the ATP1A3 gene: A case report [J] . Hayashida Takuya, Saito Yoshiaki, Ishii Atsushi, Brain & Development . 2018 ,第7期

机译：在ATP1A3基因中的Glu818突变的进一步表征Capos / Caos综合征：案例报告
4. LMNA mutations in progeroid syndromes [C] . Shurong Huang, Brian K. Kennedy, Junko Oshim Novartis Foundation symposium on Nuclear organization in development and disease . 2005

机译：Pro-opid综合征中的LMNA突变
5. Characterizing a Novel Metabolic Pathogenic Mechanism in Familial Hemiplegic Migraine [D] . Smith, Sarah Elizabeth. 2021

机译：特征在家族性偏光中新型代谢致病机制
6. A novel recurrent mutation in ATP1A3 causes CAPOS syndrome [O] . Michelle K Demos, Clara DM van Karnebeek, Colin JD Ross, 2014

机译：ATP1A3的新型复发突变导致CAPOS综合征
7. A novel recurrent mutation in ATP1A3 causes CAPOS syndrome [O] . Michelle K Demos, Clara DM van Karnebeek, Colin JD Ross, 2014

机译：ATP1A3的新型复发突变导致CAPOS综合征

CAPOS syndrome and hemiplegic migraine in a novel pedigree with the specific ATP1A3 mutation

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