Long-term Follow-Up and Novel Genotype -Phenotype Analysis of Monozygotic Twins with ATP1A3 Mutation in Alternating Hemiplegia of Childhood-2

Piero Pavone,Xena Giada Pappalardo,Gemma Incorpora,Raffaele Falsaperla,Simona Domenica Marino,Giovanni Corsello,Enrico Parano,Martino Ruggieri

EUROPEAN JOURNAL OF MEDICAL GENETICS（2020）

Cited 11|Views24

Key words

Alternating Hemiplegia of Childhood (AHC),ATPase Na+/K+ transporting subunit alpha 3 (ATP1A3),ATPase Na+/K+ transporting subunit alpha 2 (ATP1A2),p.Asn773Ser,Genotype-phenotype correlation

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