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A case of a childhood onset developmental encephalopathy with a novel de novo truncating variant in the Membrane Protein Palmitoylated 5 (MPP5) gene

Published:January 23, 2023DOI:https://doi.org/10.1016/j.seizure.2023.01.015
A case of a childhood onset developmental encephalopathy with a novel de novo truncating variant in the Membrane Protein Palmitoylated 5 (MPP5) gene
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      Abstract

      Background

      Membrane Protein Palmitoylated 5 (MPP5) is a highly conserved apical complex protein, essential for cell polarity. Defects in neuronal cell polarity are associated with neurologic disorders. Only three patients with heterozygous MPP5 de novo variants have been reported so far, with global developmental delay, behavioral changes and in only one case epileptic seizures.

      Objective

      To describe a new patient with a novel truncating de novo mutation in MPP5 and to characterize in detail the epileptic phenotype and electroencephalographic features of the encephalopathy.

      Methods

      We identified a novel truncating de novo mutation in MPP5 in a 44 year old patient by exome sequencing (p.Ser498Phefs*15). We retrospectively analyzed his clinical and instrumental data along a thirty-year follow up.

      Result

      Our patient presents with generalized tonic-clonic seizures, myoclonic and clonic seizures, non-epileptic myoclonus, tremor, severe intellectual disability, mild face dysmorphic traits, and psychosis.

      Discussion and conclusion

      We present a case of a childhood onset developmental encephalopathy with a likely-pathogenic variant in the MPP5 gene.. This represents the first complete description of the epileptic syndrome associated with the MPP5 gene.

      Keywords

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      Article info

      Publication history

      Published online: January 23, 2023
      Accepted: January 21, 2023
      Received in revised form: January 20, 2023
      Received: May 20, 2022

      Publication stage

      In Press Journal Pre-Proof

      Identification

      DOI: https://doi.org/10.1016/j.seizure.2023.01.015

      Copyright

      © 2023 British Epilepsy Association. Published by Elsevier Ltd. All rights reserved.

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