The expanding spectrum of neurological phenotypes in children with ATP1A3 mutations, Alternating Hemiplegia of Childhood, Rapid-onset Dystonia-Parkinsonism, CAPOS and beyond.
about
Insights into the Pathology of the α3 Na(+)/K(+)-ATPase Ion Pump in Neurological Disorders; Lessons from Animal ModelsThe Influence of Na(+), K(+)-ATPase on Glutamate Signaling in Neurodegenerative Diseases and SenescenceManaging Brain Extracellular K(+) during Neuronal Activity: The Physiological Role of the Na(+)/K(+)-ATPase Subunit IsoformsCognitive deficits caused by a disease-mutation in the α3 Na(+)/K(+)-ATPase isoform.ATP1A3 Mutation in Adult Rapid-Onset AtaxiaResearch conference summary from the 2014 International Task Force on ATP1A3-Related Disorders.Hypothermia-induced dystonia and abnormal cerebellar activity in a mouse model with a single disease-mutation in the sodium-potassium pump.The Structure and Function of the Na,K-ATPase Isoforms in Health and Disease.Identification of a VxP Targeting Signal in the Flagellar Na+ /K+ -ATPaseA novel de novo mutation in ATP1A3 and childhood-onset schizophrenia.De novo p.Arg756Cys mutation of ATP1A3 causes an atypical form of alternating hemiplegia of childhood with prolonged paralysis and choreoathetosis.The evolving spectrum of PRRT2-associated paroxysmal diseases.FOXG1 syndrome: genotype-phenotype association in 83 patients with FOXG1 variants.Oculogyric crises: A review of phenomenology, etiology, pathogenesis, and treatment.Diagnosis and Treatment of Alternating Hemiplegia of Childhood.Relapsing encephalopathy with cerebellar ataxia related to an ATP1A3 mutation.Emerging Monogenic Complex Hyperkinetic Disorders.More Than a Decade of Misdiagnosis of Alternating Hemiplegia of Childhood with Catastrophic Outcome.ATP1A3 mutations can cause progressive auditory neuropathy: a new gene of auditory synaptopathy.The CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for management.More Than a Decade of Misdiagnosis of Alternating Hemiplegia of Childhood with Catastrophic Outcome.Challenges describing motor profiles in alternating hemiplegia of childhood.Mosaicism in ATP1A3-related disorders: not just a theoretical risk.A Portuguese rapid-onset dystonia-parkinsonism case with atypical features.Novel pregnancy-triggered episodes of CAPOS syndrome.
P2860
Q26744625-77AF1A8A-6A85-4AFD-BED7-44673E6196FDQ26745558-19C3F912-9631-4B27-A3A6-7D0D7100CCC3Q26752671-BE24E3B2-3013-4D82-9EBD-A0DB2C33C07BQ27315555-DC34E113-C538-4152-A29F-70DA3A80E0EDQ27317321-E6158EB9-6662-4484-9E17-7A8D0A6C4BD0Q30840535-24CF82D9-8368-43E5-830B-B0631F69CEFAQ33704448-9AFCE9F3-3DCA-4001-AD87-2E99F9995ACAQ33766129-43C4297C-27B2-43DC-B617-0AEAE0740B05Q36470372-138C0C87-B213-4C06-8E85-F62C36634907Q37212874-716FCB33-D422-45D8-9B24-2DEA7993CECEQ37260425-4F903B3D-5AA2-4F65-80BD-895E30B60605Q38644996-09380787-D9E2-4A6E-9F1D-E208567AE238Q38702643-7DBBEEB6-E815-4296-94AF-B8B89EBA86A8Q39144226-E2780FB9-2ADA-4FA5-A5A8-B6F8C6B1D26CQ39197876-72FBE11C-D6B5-49E5-BE5C-2988264089F6Q40138002-0D6CA9F2-8C4A-4B74-9FD6-A04A015C3426Q44707117-52204A3A-0936-4D26-AF78-18223E5CC665Q47094755-6007BBFB-4B6A-4152-A71B-7D1F67EB84B0Q47132491-4BE20DC2-7C13-4D5A-9D3C-D58EEB22E9E7Q47203276-B43F72D1-DB39-4F67-84EC-798D841A842DQ48115753-E72811BC-1993-4E95-AB75-7C3C343ACF28Q48360979-2D0A0C95-38A6-4DBA-9063-60BAEFC93E98Q50313594-65DD7E16-308E-4248-96A9-6C53FCB1E62DQ50346732-1BD957AF-4F91-4386-941D-0968C822D9C9Q52843415-45644518-DD31-4425-B315-60EF4F142881
P2860
The expanding spectrum of neurological phenotypes in children with ATP1A3 mutations, Alternating Hemiplegia of Childhood, Rapid-onset Dystonia-Parkinsonism, CAPOS and beyond.
description
2014 nî lūn-bûn
@nan
2014年の論文
@ja
2014年学术文章
@wuu
2014年学术文章
@zh-cn
2014年学术文章
@zh-hans
2014年学术文章
@zh-my
2014年学术文章
@zh-sg
2014年學術文章
@yue
2014年學術文章
@zh
2014年學術文章
@zh-hant
name
The expanding spectrum of neur ...... arkinsonism, CAPOS and beyond.
@en
type
label
The expanding spectrum of neur ...... arkinsonism, CAPOS and beyond.
@en
prefLabel
The expanding spectrum of neur ...... arkinsonism, CAPOS and beyond.
@en
P2860
P1433
P1476
The expanding spectrum of neur ...... arkinsonism, CAPOS and beyond.
@en
P2093
Matthew T Sweney
Tara M Newcomb
P2860
P356
10.1016/J.PEDIATRNEUROL.2014.09.015
P577
2014-10-13T00:00:00Z