Background ATP8A2 mutations have recently been described in several patients with
severe, early-onset hypotonia and cognitive impairment. The aim of our study was to …

Marker-assisted selection is an effective method in novel animal breeding programs. This
study was conducted to perform a genome-wide association study to detect candidate genes …

Cerebellar ataxia, mental retardation, and disequilibrium syndrome 4 (CAMRQ4) is early
onset neuromotor disorder and intellectual disabilities caused by variants of ATP8A2. We …

Background Cerebellar ataxia, mental retardation, and dysequilibrium (CAMRQ) syndrome
is a rare and early‐onset neurodevelopmental disorder. Four subtypes of this syndrome …

Congenital ataxias are a heterogeneous group of disorders characterized by congenital or
early‐onset ataxia. Here, we describe two siblings with congenital ataxia, who acquired …

Abstract ATPase, class 1, type 8A, member 2 (ATP8A2) is a P4-ATPase with a critical role in
phospholipid translocation across the plasma membrane. Pathogenic variants in ATP8A2 …

ATP8A2 can translocate phospholipids from exoplasmic to the cytoplasmic leaflets to
establish and maintain the lipid asymmetry between the two leaflets. ATP8A2 has been …

Cerebellar ataxia, mental retardation, and disequilibrium syndrome (CAMRQ) is a
genetically and clinically heterogeneous disorder with four described subtypes. Autosomal …