ALLMedicine™ Alternating Hemiplegia Of Childhood Center
Research & Reviews 94 results
Journal of the American Heart Association; Moya-Mendez ME, Ogbonna C et. al.
Aug 31st, 2021 - Background Pathogenic variation in the ATP1A3-encoded sodium-potassium ATPase, ATP1A3, is responsible for alternating hemiplegia of childhood (AHC). Although these patients experience a high rate of sudden unexpected death in epilepsy, the pathoph...
Molecular Genetics & Genomic Medicine; Biela M, Rydzanicz M et. al.
Aug 4th, 2021 - Variants in ATP1A3 cause well-known phenotypes-alternating hemiplegia of childhood (AHC), rapid-onset dystonia-parkinsonism (RDP), cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss (CAPOS), and severe early infanti...
BMC Neurology; Chen H, Sun X et. al.
Jul 8th, 2021 - Hemiplegic migraine (HM) is an uncommon subtype of migraine with aura including motor weakness. The core symptoms of HM are headache and motor weakness. However, we report a rare case of atypical HM with nonheadache onset in a Chinese child who wa...
Brain : a Journal of Neurology; Vetro A, Nielsen HN et. al.
Apr 22nd, 2021 - Constitutional heterozygous mutations of ATP1A2 and ATP1A3, encoding for two distinct isoforms of the Na+/K+-ATPase (NKA) alpha-subunit, have been associated with familial hemiplegic migraine (ATP1A2), alternating hemiplegia of childhood (ATP1A2/A...
BMC Medical Genomics; Huang D, Liu M et. al.
Apr 3rd, 2021 - ATP1A2 gene mutation has been indicated to cause alternating hemiplegia of childhood (AHC); however, limited evidence supports this relationship so far. We reported two Chinese patients with de novo ATP1A2 variants (c.970G>A and c.889G>A). Both pa...