Warning: Undefined array key "mm" in /www/wwwroot/www.ai-bt.com/si.php on line 10 Deprecated: trim(): Passing null to parameter #1 ($string) of type string is deprecated in /www/wwwroot/www.ai-bt.com/si.php on line 10 Childhood-onset ATP1A3-related conditions: Report of two new cases of phenotypic spectrum.

Literature DB >> 27268479

Childhood-onset ATP1A3-related conditions: Report of two new cases of phenotypic spectrum.

Francesco Nicita¹, Lorena Travaglini², Sandro Sabatini², Barbara Garavaglia³, Celeste Panteghini³, Massimiliano Valeriani⁴, Enrico Bertini⁴, Nardo Nardocci⁵, Federico Vigevano⁴, Alessandro Capuano⁶.

Abstract

Entities: Gene Mutation

Keywords: Alternating hemiplegia of childhood; Dystonia; Epilepsy; Fever; Rapid-onset dystonia-parkinsonism

Mesh：

Substances：

Year: 2016 PMID： 27268479 DOI： 10.1016/j.parkreldis.2016.05.029

Source DB: PubMed Journal: Parkinsonism Relat Disord ISSN： 1353-8020 Impact factor: 4.891

Keyword Cloud
Cited

× No keyword cloud information.

8 in total

1. D-DEMØ, a distinct phenotype caused by ATP1A3 mutations.

Authors: Lyndsey Prange; Milton Pratt; Kristin Herman; Raphael Schiffmann; David M Mueller; Melissa McLean; Mary Moya Mendez; Nicole Walley; Erin L Heinzen; David Goldstein; Vandana Shashi; Arsen Hunanyan; Vijay Pagadala; Mohamad A Mikati
Journal: Neurol Genet Date: 2020-08-04

2. Childhood Rapid-Onset Ataxia: Expanding the Phenotypic Spectrum of ATP1A3 Mutations.

Authors: Tommaso Schirinzi; Federica Graziola; Francesco Nicita; Lorena Travaglini; Fabrizia Stregapede; Massimiliano Valeriani; Paolo Curatolo; Enrico Bertini; Federico Vigevano; Alessandro Capuano
Journal: Cerebellum Date: 2018-08 Impact factor: 3.847

Childhood-onset ATP1A3-related conditions: Report of two new cases of phenotypic spectrum.

1. D-DEMØ, a distinct phenotype caused by ATP1A3 mutations.

2. Childhood Rapid-Onset Ataxia: Expanding the Phenotypic Spectrum of ATP1A3 Mutations.

3. Familial childhood-onset progressive cerebellar syndrome associated with the ATP1A3 mutation.

Review 4. ATP1A3-Related Disorders: An Ever-Expanding Clinical Spectrum.

5. Genetically altered animal models for ATP1A3-related disorders.

6. Chinese patients with p.Arg756 mutations of ATP1A3: Clinical manifestations, treatment, and follow-up.

7. ATP1A3 mutation in rapid-onset dystonia parkinsonism: New data and genotype-phenotype correlation analysis.

Review 8. Genetic Dystonia-ataxia Syndromes: Clinical Spectrum, Diagnostic Approach, and Treatment Options.