Two Siblings with Cerebellar Ataxia, Mental Retardation, and Disequilibrium Syndrome 4 and a Novel Variant of <i>ATP8A2</i>-Reference-Cited by-同舟云学术

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Two Siblings with Cerebellar Ataxia, Mental Retardation, and Disequilibrium Syndrome 4 and a Novel Variant of <i>ATP8A2</i>

Published:2022 Issue:4 Volume:256 Page:321-326
ISSN:0040-8727
Container-title:The Tohoku Journal of Experimental Medicine
language:en
Short-container-title:Tohoku J. Exp. Med.

Author:

Narishige Yuta¹,Yaoita Hisao²,Shibuya Moriei¹,Ikeda Miki¹,Kodama Kaori¹,Kawashima Aritomo¹,Okubo Yukimune¹,Endo Wakaba¹,Inui Takehiko¹,Togashi Noriko¹,Tanaka Soichiro¹,Kobayashi Yasuko³,Onuma Akira³,Takayama Jun⁴,Tamiya Gen⁵,Kikuchi Atsuo²,Kure Shigeo²,Haginoya Kazuhiro¹

Affiliation:

1. Department of Pediatric Neurology, Miyagi Children’s Hospital

2. Department of Pediatrics, Tohoku University School of Medicine

3. Department of Pediatric Neurology, Takuto Rehabilitation Center for Children

4. Tohoku University Graduate School of Medicine

5. Tohoku Medical Megabank Organization, Tohoku University

Publisher

Tohoku University Medical Press

Subject

General Biochemistry, Genetics and Molecular Biology,General Medicine

Link

https://www.jstage.jst.go.jp/article/tjem/256/4/256_2022.J010/_pdf

Reference21 articles.

1. Alsahli, S., Alrifai, M.T., Al Tala, S., Mutairi, F.A. & Alfadhel, M.(2018) Further delineation of the clinical phenotype of cerebellar ataxia, mental retardation, and disequilibrium syndrome type 4. J. Cent. Nerv. Syst. Dis., 10, 1179573518759682.

2. Andersen, J.P., Vestergaard, A.L., Mikkelsen, S.A., Mogensen, L.S., Chalat, M. & Molday, R.S.(2016) P4-ATPases as phospholipid flippases-structure, function, and enigmas. Front. Physiol., 7, 275.

3. Bostan, A.C., Dum, R.P. & Strick, P.L.(2010) The basal ganglia communicate with the cerebellum. Proc. Natl. Acad. Sci. U. S. A., 107, 8452-8456.

4. Buckner, R.L., Krienen, F.M., Castellanos, A., Diaz, J.C. & Yeo, B.T.(2011) The organization of the human cerebellum estimated by intrinsic functional connectivity. J. Neurophysiol., 106, 2322-2345.

5. Cacciagli, P., Haddad, M.R., Mignon-Ravix, C., El-Waly, B., Moncla, A., Missirian, C., Chabrol, B. & Villard, L.(2010) Disruption of the ATP8A2 gene in a patient with a t(10;13) de novo balanced translocation and a severe neurological phenotype. Eur. J. Hum. Genet., 18, 1360-1363.

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3. A novel missense variant in the ATPase domain of ATP8A2 and review of phenotypic variability ofATP8A2-related disorders caused by missense changes;2024-05-15

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