Search results for "p.Asn773Ser"

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Long-term follow-up and novel genotype-phenotype analysis of monozygotic twins with ATP1A3 mutation in Alternating Hemiplegia of Childhood-2

2020

Alternating Hemiplegia of Childhood (AHC) is a rare disorder characterized by frequent, transient attacks of hemiplegia involving either side of the body or both in association to several other disturbances including dystonic spells, abnormal ocular movements, autonomic manifestations, epileptic seizures and cognitive impairment. The clinical manifestations usually start before the age of 18 months. Two forms of the disorder known as AHC-1 (MIM#104290) and AHC-2 (MIM#614820) depends on mutations in ATP1A2 and ATP1A3 genes respectively, with over 75% of AHC caused by a mutation in the ATP1A3 gene. Herewith, we report serial clinical follow-up data of monozygotic (MZ) twin sisters, who presen…

Pediatricsmedicine.medical_specialtyGenotype-phenotype correlationGenotypeTwinsHemiplegiaMonozygoticEpilepsyYoung AdultSettore MED/38 - Pediatria Generale E SpecialisticaATP1A2Alternating Hemiplegia of Childhood (AHC)ATP1A3GenotypeGeneticsmedicineHumansYoung adultATPase Na+/K+ transporting subunit alpha 2 (ATP1A2)Genetics (clinical)DystoniaATPase Na+/K+ transporting subunit alpha 3 (ATP1A3)business.industryAlternating hemiplegia of childhoodp.Asn773SerGeneral MedicineTwins Monozygoticmedicine.diseasePhenotypePhenotypeMutationFemaleSodium-Potassium-Exchanging ATPasebusiness
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