Clinical spectrum of disease associated with ATP1A3 mutations
Author:
Publisher
Elsevier BV
Subject
Clinical Neurology
Reference10 articles.
1. Heterozygous de-novo mutations in ATP1A3 in patients with alternating hemiplegia of childhood: a whole-exome sequencing gene-identification study;Rosewich;Lancet Neurol,2012
2. Alternating hemiplegia of childhood: early characteristics and evolution of a neurodevelopmental syndrome;Sweney;Pediatrics,2009
3. Evidence of a non-progressive course of alternating hemiplegia of childhood: study of a large cohort of children and adults;Panagiotakaki;Brain,2010
4. The treatment and management of alternating hemiplegia of childhood;Neville;Dev Med Child Neurol,2007
5. The phenotypic spectrum of rapid-onset dystonia-parkinsonism (RDP) and mutations in the ATP1A3 gene;Brashear;Brain,2007
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1. Clinical and Genetic Overview of Paroxysmal Movement Disorders and Episodic Ataxias;International Journal of Molecular Sciences;2020-05-20
2. ATP1A3 mutations can cause progressive auditory neuropathy: a new gene of auditory synaptopathy;Scientific Reports;2017-11-28
3. De novo p.Arg756Cys mutation of ATP1A3 causes an atypical form of alternating hemiplegia of childhood with prolonged paralysis and choreoathetosis;BMC Neurology;2016-09-15
4. Paroxysmal movement disorders: An update;Revue Neurologique;2016-08
5. A novel de novo mutation in ATP1A3 and childhood-onset schizophrenia;Molecular Case Studies;2016-07-07
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