Virginia C N Wong1, Anna K Y Kwong2. 1. Division of Paediatric Neurology/Developmental Behavioural Paediatrics/NeuroHabilitation, Department of Paediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, China. Electronic address: vcnwong@hku.hk. 2. Department of Paediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, China.
Abstract
BACKGROUND: This Chinese girl had alternating hemiplegia of childhood (AHC) since 2 months. She failed to respond to anticonvulsants, antimigrainous drugs and calcium channel blockers but achieved complete remission steroid treatment for 4 weeks and relapsed after stopping steroid. PURPOSE: In order to clarify the unknown etiology, genetic analysis of ATP1A3 gene, which encodes the alpha3-subunit of the sodium/potassium-transporting ATPase (Na, K-ATPase), has been done by Sanger sequencing. RESULTS: A de novo heterozygous missense mutation (c.2401G>A; p.D801N) was identified in exon 17 of ATP1A3 gene and this is one of the hotspot mutations found in AHC patients. CONCLUSION: It will be interesting to further investigate whether Na, K-ATPase was the target of corticosteroid treatment.
BACKGROUND: This Chinese girl had alternating hemiplegia of childhood (AHC) since 2 months. She failed to respond to anticonvulsants, antimigrainous drugs and calcium channel blockers but achieved complete remission steroid treatment for 4 weeks and relapsed after stopping steroid. PURPOSE: In order to clarify the unknown etiology, genetic analysis of ATP1A3 gene, which encodes the alpha3-subunit of the sodium/potassium-transporting ATPase (Na, K-ATPase), has been done by Sanger sequencing. RESULTS: A de novo heterozygous missense mutation (c.2401G>A; p.D801N) was identified in exon 17 of ATP1A3 gene and this is one of the hotspot mutations found in AHCpatients. CONCLUSION: It will be interesting to further investigate whether Na, K-ATPase was the target of corticosteroid treatment.
Authors: Paula F Kinoshita; Jacqueline A Leite; Ana Maria M Orellana; Andrea R Vasconcelos; Luis E M Quintas; Elisa M Kawamoto; Cristoforo Scavone Journal: Front Physiol Date: 2016-06-02 Impact factor: 4.566