ArticleNeurogenetics2017
Mosaicism in ATP1A3-related disorders: not just a theoretical risk.
Article in Neurogenetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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Who cites it
21 citing papers in PubMed, 33 citations in OpenAlex.
- Navigating the Complexity of Alternating Hemiplegia in Childhood: A Comprehensive Review.Rambam Maimonides medical journal · 2024Review
- Article
- Evaluating Dysfunction in Fever-Induced Paroxysmal Weakness and Encephalopathy.Children (Basel, Switzerland) · 2023Article
- Germline mosaicism for a disease-causing mutation in the ATP1A3 gene in a Chinese family.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2023Article
- ATP1A3-Related Relapsing Encephalopathy with Cerebellar Ataxia (RECA): A Genetic Disorder with an Inflammatory Basis?Movement disorders clinical practice · 2022Article
- The Phenotypic Continuum ofNeurology · 2022Review
- Different phenotypes of neurological diseases, including alternating hemiplegia of childhood and rapid-onset dystonia-parkinsonism, caused by de novo ATP1A3 mutation in a family.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2022Article
- Chinese patients with p.Arg756 mutations ofPediatric investigation · 2022Article
- Genetically altered animal models for ATP1A3-related disorders.Disease models & mechanisms · 2021Article
- Variants of ATP1A3 in residue 756 cause a separate phenotype of relapsing encephalopathy with cerebellar ataxia (RECA)-Report of two cases and literature review.Molecular genetics & genomic medicine · 2021Review
- ATP1A3-Related Disorders: An Ever-Expanding Clinical Spectrum.Frontiers in neurology · 2021Review
- Paroxysmal Movement Disorders.Frontiers in neurology · 2021Review
- Alternating Hemiplegia of Childhood: Understanding the Genotype-Phenotype Relationship of ATP1A3 Variations.The application of clinical genetics · 2020Review
- ATP1A3 mosaicism in families with alternating hemiplegia of childhood.Clinical genetics · 2019Article
- Generalized Dystonia and Paroxysmal Dystonic Attacks due to a NovelTremor and other hyperkinetic movements (New York, N.Y.) · 2019Article
- Paroxysmal motor disorders: expanding phenotypes lead to coalescing genotypes.Annals of clinical and translational neurology · 2018Review
- Novel pregnancy-triggered episodes of CAPOS syndrome.American journal of medical genetics. Part A · 2018Review
- Genomic mosaicism in paternal sperm and multiple parental tissues in a Dravet syndrome cohort.Scientific reports · 2017Article
- Emerging Monogenic Complex Hyperkinetic Disorders.Current neurology and neuroscience reports · 2017Review
- Update on the Genetics of Dystonia.Current neurology and neuroscience reports · 2017Review
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Authors and funding
13 authors at 7 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Mutations in ATP1A3 are involved in a large spectrum of neurological disorders, including rapid onset dystonia parkinsonism (RDP), alternating hemiplegia of childhood (AHC), and cerebellar ataxia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS), with recent descriptions of overlapping phenotypes. In AHC, a few familial cases of autosomal dominant inheritance have been reported, along with cases of de novo sporadic mutations. In contrast, autosomal dominant inheritance has frequently been associated with RDP and CAPOS. Here, we report on two unrelated sets of full siblings with ATP1A3 mutations, (c.2116G>A) p. Gly706Arg in the first family, and (c.2266C>T) p. Arg756Cys in the second family, presenting with familial recurrence of the disease. Both families displayed parental germline mosaicism. In the first family, the brother and sister presented with severe intellectual deficiency, early onset pharmacoresistant epilepsy, ataxia, and autistic features. In the second family, both sisters demonstrated severe encephalopathy with ataxia and dystonia following a regression episode during a febrile episode during infancy. To our knowledge, mosaicism has not previously been reported in ATP1A3-related disorders. This report, therefore, provides evidence that germline mosaicism for ATP1A3 mutations is a likely explanation for familial recurrence and should be considered during recurrence risk counseling for families of children with ATP1A3-related disorders.
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