Abstract
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Capucine Glasson, Marc Gibaud, Marie Alesandrini, Floriane Lebricquir, Lucile Altenburger, Mathilde Nizon, Capucine de Lattre, Guy Letellier, Magalie Barth, Marie Hully, Mélodie Aubart, Patrick Van Bogaert
Abstract
Authors
No local reference links have been materialized yet.
No local citing links have been materialized yet.
Distinct neurological disorders with ATP1A3 mutations
10.1016/s1474-4422(14)70011-0 · 2014
Alternating hemiplegia of childhood: clinical manifestations and long-term outcome
10.1016/s0887-8994(00)00157-0 · 2000
Fever-induced paroxysmal weakness and encephalopathy, a new phenotype of ATP1A3 mutation
10.1016/j.pediatrneurol.2017.04.022 · 2017
ATP1A3-Related disorders: an ever-expanding clinical spectrum
10.3389/fneur.2021.637890 · 2021
Clinical approach to the diagnosis of autoimmune encephalitis in the pediatric patient
10.1212/nxi.0000000000000663 · 2020
Pediatric auto-immune encephalitis
2021
Variants of ATP1A3 in residue 756 cause a separate phenotype of relapsing encephalopathy with cerebellar ataxia (RECA)-report of two cases and literature review
10.1002/mgg3.1772 · 2021
De novo p.Arg756Cys mutation of ATP1A3 causes an atypical form of alternating hemiplegia of childhood with prolonged paralysis and choreoathetosis
10.1186/s12883-016-0680-6 · 2016
Relapsing encephalopathy with cerebellar ataxia related to an ATP1A3 mutation
10.1111/dmcn.12927 · 2015
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crossref
Confidence 100%
openalex
Confidence 95%
datacite
Confidence 0%
Chinese patients with p.Arg756 mutations of ATP1A3: clinical manifestations, treatment, and follow-up
10.1002/ped4.12310 · 2022
Mutations in the Na+/K+ -ATPase alpha3 gene ATP1A3 are associated with rapid-onset dystonia parkinsonism
10.1016/j.neuron.2004.06.028 · 2004
De novo mutations in ATP1A3 cause alternating hemiplegia of childhood
10.1038/ng.2358 · 2012
Management of alternating hemiplegia of childhood: a review
10.1016/j.pediatrneurol.2019.10.003 · 2020
Paroxysmal features responding to flunarizine in a child with rapid-onset dystonia-parkinsonism
10.1212/wnl.0000000000000473 · 2014
Molecular and clinical characteristics of ATP1A3-related diseases
2022
ATP1A3 mutation in a Chinese girl with alternating hemiplegia of childhood–potential target of treatment?
10.1016/j.braindev.2015.01.003 · 2015
ATP1A3 mutation in a Chinese girl with alternating hemiplegia of childhood–potential target of treatment?
10.1016/j.braindev.2015.01.003 · doi-reference
Paroxysmal features responding to flunarizine in a child with rapid-onset dystonia-parkinsonism
10.1212/wnl.0000000000000473 · doi-reference
Management of alternating hemiplegia of childhood: a review
10.1016/j.pediatrneurol.2019.10.003 · doi-reference
De novo mutations in ATP1A3 cause alternating hemiplegia of childhood
10.1038/ng.2358 · doi-reference
Mutations in the Na+/K+ -ATPase alpha3 gene ATP1A3 are associated with rapid-onset dystonia parkinsonism
10.1016/j.neuron.2004.06.028 · doi-reference
Chinese patients with p.Arg756 mutations of ATP1A3: clinical manifestations, treatment, and follow-up
10.1002/ped4.12310 · doi-reference
Relapsing encephalopathy with cerebellar ataxia related to an ATP1A3 mutation
10.1111/dmcn.12927 · doi-reference
De novo p.Arg756Cys mutation of ATP1A3 causes an atypical form of alternating hemiplegia of childhood with prolonged paralysis and choreoathetosis
10.1186/s12883-016-0680-6 · doi-reference
Variants of ATP1A3 in residue 756 cause a separate phenotype of relapsing encephalopathy with cerebellar ataxia (RECA)-report of two cases and literature review
10.1002/mgg3.1772 · doi-reference
Clinical approach to the diagnosis of autoimmune encephalitis in the pediatric patient
10.1212/nxi.0000000000000663 · doi-reference
ATP1A3-Related disorders: an ever-expanding clinical spectrum
10.3389/fneur.2021.637890 · doi-reference
Fever-induced paroxysmal weakness and encephalopathy, a new phenotype of ATP1A3 mutation
10.1016/j.pediatrneurol.2017.04.022 · doi-reference
Alternating hemiplegia of childhood: clinical manifestations and long-term outcome
10.1016/s0887-8994(00)00157-0 · doi-reference
Distinct neurological disorders with ATP1A3 mutations
10.1016/s1474-4422(14)70011-0 · doi-reference