Alternating Hemiplegia Of Childhood
Last Posted: Oct 02, 2015
- Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood-a study of 155 patients.
Panagiotakaki Eleni, et al. Orphanet journal of rare diseases 2015 0 123
- Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF Registry.
Viollet Louis, et al. PloS one 2015 0 (5) e0127045
- ATP1A3 mutations and genotype-phenotype correlation of alternating hemiplegia of childhood in Chinese patients.
Yang Xiaoling, et al. PloS one 2014 0 (5) e97274
- Genotype-phenotype correlations in alternating hemiplegia of childhood.
Sasaki Masayuki, et al. Neurology 2014 2 (6) 482-90
- No Mutation in the SLC2A3 Gene in Cohorts of GLUT1 Deficiency Syndrome-Like Patients Negative for SLC2A1 and in Patients with AHC Negative for ATP1A3.
Bizec C Le, et al. JIMD reports 2014 0 115-20
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Graves Disease
- Huntington Disease
- Myasthenia Gravis
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
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