RGD Reference Report - Genotype-phenotype correlations in alternating hemiplegia of childhood. - Rat Genome Database

Send us a Message



 Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Community Projects (beta) QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap)  (beta) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes GERRC (Gene Editing Rat Resource Center) Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

Genotype-phenotype correlations in alternating hemiplegia of childhood.

Authors: Sasaki, Masayuki  Ishii, Atsushi  Saito, Yoshiaki  Morisada, Naoya  Iijima, Kazumoto  Takada, Satoshi  Araki, Atsushi  Tanabe, Yuko  Arai, Hidee  Yamashita, Sumimasa  Ohashi, Tsukasa  Oda, Yoichiro  Ichiseki, Hiroshi  Hirabayashi, Shininchi  Yasuhara, Akihiro  Kawawaki, Hisashi  Kimura, Sadami  Shimono, Masayuki  Narumiya, Seiro  Suzuki, Motomasa  Yoshida, Takeshi  Oyazato, Yoshinobu  Tsuneishi, Shuichi  Ozasa, Shiro  Yokochi, Kenji  Dejima, Sunao  Akiyama, Tomoyuki  Kishi, Nobuyuki  Kira, Ryutaro  Ikeda, Toshio  Oguni, Hirokazu  Zhang, Bo  Tsuji, Shoji  Hirose, Shinichi 
Citation: Sasaki M, etal., Neurology. 2014 Feb 11;82(6):482-90. doi: 10.1212/WNL.0000000000000102. Epub 2014 Jan 15.
RGD ID: 11576279
Pubmed: PMID:24431296   (View Abstract at PubMed)
DOI: DOI:10.1212/WNL.0000000000000102   (Journal Full-text)


OBJECTIVE: Clinical severity of alternating hemiplegia of childhood (AHC) is extremely variable. To investigate genotype-phenotype correlations in AHC, we analyzed the clinical information and ATP1A3 mutations in patients with AHC.
METHODS: Thirty-five Japanese patients who were clinically diagnosed with AHC participated in this study. ATP1A3 mutations were analyzed using Sanger sequencing. Detailed clinical information was collected from family members of patients with AHC and clinicians responsible for their care.
RESULTS: Gene analysis revealed 33 patients with de novo heterozygous missense mutations of ATP1A3: Glu815Lys in 12 cases (36%), Asp801Asn in 10 cases (30%), and other missense mutations in 11 cases. Clinical information was compared among the Glu815Lys, Asp801Asn, and other mutation groups. Statistical analysis revealed significant differences in the history of neonatal onset, gross motor level, status epilepticus, and respiratory paralysis in the Glu815Lys group compared with the other groups. In addition, 8 patients who did not receive flunarizine had severe motor deteriorations.
CONCLUSIONS: The Glu815Lys genotype appears to be associated with the most severe AHC phenotype. Although AHC is not generally seen as a progressive disorder, it should be considered a disorder that deteriorates abruptly or in a stepwise fashion, particularly in patients with the Glu815Lys mutation.



Disease Annotations    

Objects Annotated

Genes (Rattus norvegicus)
Atp1a3  (ATPase Na+/K+ transporting subunit alpha 3)

Genes (Mus musculus)
Atp1a3  (ATPase, Na+/K+ transporting, alpha 3 polypeptide)

Genes (Homo sapiens)
ATP1A3  (ATPase Na+/K+ transporting subunit alpha 3)


Additional Information