De novo heterozygous missense variants in ATP11A are associated with refractory focal epilepsy
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De novo heterozygous missense variants in ATP11A are associated with refractory focal epilepsy
Background ATP11A encodes an integral-membrane type IV P-type-adenosine triphosphatase that plays an important role in neural development by maintaining membrane lipid asymmetry. ATP11A de novo hetero...
