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| http://dx.doi.org/10.6004/jnccn.2024.7214 | DOI Listing |
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View Article and Find Full Text PDFMixed functional consequences of the N651D variant: a case of early-onset developmental and epileptic encephalopathy with parkinsonism.
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Department of Pediatrics, Danish Epilepsy Center, Dianalund, Denmark
Rare variants in , the gene encoding the GluA3 subunit of amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid (AMPA)-type glutamate receptors (AMPARs), are associated with defects in early brain development. Disease-causing variants are generally categorised as either loss of function (LoF) or gain of function (GoF) that appear to be linked to different symptoms. Here, we reported a de novo variant (N651D) that has mixed LoF and GoF in a female patient with a devastating developmental and epileptic encephalopathy, parkinsonism and cortical malformation.
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