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ALLMedicine™ Alternating Hemiplegia Of Childhood Center

Research & Reviews  94 results

ATP1A3-Encoded Sodium-Potassium ATPase Subunit Alpha 3 D801N Variant Is Associated With...
https://doi.org/10.1161/JAHA.120.019887
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...

Variants of ATP1A3 in residue 756 cause a separate phenotype of relapsing encephalopath...
https://doi.org/10.1002/mgg3.1772
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...

A case report of atypical hemiplegic migraine with nonheadache onset in a Chinese child.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8258926
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...

ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria.
https://doi.org/10.1093/brain/awab052
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...

De novo ATP1A2 variants in two Chinese children with alternating hemiplegia of childhoo...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8017680
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...

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