Relapsing encephalopathy with cerebellar ataxia related to an ATP1A3 mutation.
about
ATP1A3 Mutation in Adult Rapid-Onset AtaxiaDeficits in social behavioral tests in a mouse model of alternating hemiplegia of childhood.Research conference summary from the 2014 International Task Force on ATP1A3-Related Disorders.A case of rapid-onset dystonia-parkinsonism accompanied by pyramidal tract impairment.De novo p.Arg756Cys mutation of ATP1A3 causes an atypical form of alternating hemiplegia of childhood with prolonged paralysis and choreoathetosis.Diagnosis and Treatment of Alternating Hemiplegia of Childhood.The CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for management.Atp1a3-deficient heterozygous mice show lower rank in the hierarchy and altered social behavior.Mosaicism in ATP1A3-related disorders: not just a theoretical risk.Novel pregnancy-triggered episodes of CAPOS syndrome.
P2860
Q27317321-39C429F8-63BF-40B3-A3E1-B06D9FD84053Q30380725-13212E28-6F9C-4F72-BAD0-618480D76D2AQ30840535-8D04A1DC-EB81-42E5-808C-8183F0E0C070Q36190197-6B4A098F-B076-4A6D-BB0E-D04933AB5741Q37260425-78016952-9A45-482C-A15F-DC4EE16AF35AQ39197876-69D1C89F-088E-41C7-B70B-CEEE1576FFD0Q47203276-2CF04656-02B8-4AD7-A66F-3D8525E3054BQ47645347-803D61F8-0EAB-408C-A02C-37FFCA4981B9Q50313594-D0E5AF6A-7876-4EDA-90EF-BE97354AECDCQ52843415-3B793409-9C51-4C48-A410-10A1A2AAC0CD
P2860
Relapsing encephalopathy with cerebellar ataxia related to an ATP1A3 mutation.
description
2015 nî lūn-bûn
@nan
2015年の論文
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2015年論文
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2015年論文
@zh-hant
2015年論文
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2015年論文
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2015年論文
@zh-tw
2015年论文
@wuu
2015年论文
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2015年论文
@zh-cn
name
Relapsing encephalopathy with cerebellar ataxia related to an ATP1A3 mutation.
@en
type
label
Relapsing encephalopathy with cerebellar ataxia related to an ATP1A3 mutation.
@en
prefLabel
Relapsing encephalopathy with cerebellar ataxia related to an ATP1A3 mutation.
@en
P2093
P2860
P356
P1476
Relapsing encephalopathy with cerebellar ataxia related to an ATP1A3 mutation.
@en
P2093
Cyril Mignot
Damien Sanlaville
Emmanuel Roze
Fanny Mochel
Gaetan Lesca
Rodolphe Dard
P2860
P304
P356
10.1111/DMCN.12927
P577
2015-09-23T00:00:00Z