PMID- 36710240
OWN - NLM
STAT- MEDLINE
DCOM- 20240409
LR  - 20240409
IS  - 1532-2688 (Electronic)
IS  - 1059-1311 (Linking)
VI  - 116
DP  - 2024 Mar
TI  - A case of a childhood onset developmental encephalopathy with a novel de novo 
      truncating variant in the Membrane Protein Palmitoylated 5 (MPP5) gene.
PG  - 151-155
LID - S1059-1311(23)00021-3 [pii]
LID - 10.1016/j.seizure.2023.01.015 [doi]
AB  - 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.
CI  - Copyright (c) 2023. Published by Elsevier Ltd.
FAU - Zanotta, Nicoletta
AU  - Zanotta N
AD  - Clinical Neurophysiology Unit, Scientific Institute, IRCCS E. Medea Via don Luigi 
      Monza, 20, Bosisio Parini, Lecco 23842, Italy. Electronic address: 
      nicoletta.zanotta@lanostrafamiglia.it.
FAU - Panzeri, Elena
AU  - Panzeri E
AD  - Molecular Biology Laboratory, Scientific Institute, IRCCS E. Medea Via don Luigi 
      Monza, 20, Bosisio Parini, Lecco 23842, Italy.
FAU - Minghetti, Sara
AU  - Minghetti S
AD  - Clinical Neurophysiology Unit, Scientific Institute, IRCCS E. Medea Via don Luigi 
      Monza, 20, Bosisio Parini, Lecco 23842, Italy.
FAU - Citterio, Andrea
AU  - Citterio A
AD  - Molecular Biology Laboratory, Scientific Institute, IRCCS E. Medea Via don Luigi 
      Monza, 20, Bosisio Parini, Lecco 23842, Italy.
FAU - Giorda, Roberto
AU  - Giorda R
AD  - Molecular Biology Laboratory, Scientific Institute, IRCCS E. Medea Via don Luigi 
      Monza, 20, Bosisio Parini, Lecco 23842, Italy.
FAU - Marelli, Susan
AU  - Marelli S
AD  - Medical Genetic Service, Scientific Institute, IRCCS E. Medea Via don Luigi 
      Monza, 20, Bosisio Parini, Lecco 23842, Italy.
FAU - Bassi, Maria Teresa
AU  - Bassi MT
AD  - Molecular Biology Laboratory, Scientific Institute, IRCCS E. Medea Via don Luigi 
      Monza, 20, Bosisio Parini, Lecco 23842, Italy.
FAU - Zucca, Claudio
AU  - Zucca C
AD  - Clinical Neurophysiology Unit, Scientific Institute, IRCCS E. Medea Via don Luigi 
      Monza, 20, Bosisio Parini, Lecco 23842, Italy.
LA  - eng
PT  - Case Reports
PT  - Journal Article
DEP - 20230123
PL  - England
TA  - Seizure
JT  - Seizure
JID - 9306979
RN  - EC 2.7.4.8 (MPP5 protein, human)
RN  - 0 (Membrane Proteins)
RN  - EC 2.7.4.4 (Nucleoside-Phosphate Kinase)
SB  - IM
MH  - Humans
MH  - Child
MH  - Adult
MH  - Retrospective Studies
MH  - *Epilepsy/genetics
MH  - Seizures/genetics
MH  - *Intellectual Disability/genetics
MH  - Phenotype
MH  - *Brain Diseases/genetics
MH  - Membrane Proteins/genetics
MH  - Nucleoside-Phosphate Kinase/genetics
OTO - NOTNLM
OT  - Clinical phenotype
OT  - Developmental encephalopathy
OT  - MPP5 gene
COIS- Declaration of Competing Interest None of the authors has any conflict of 
      interest to disclose. We confirm that we have read the Journal's position on 
      issues involved in ethical publication and affirm that this report is consistent 
      with those guidelines.
EDAT- 2023/01/30 06:00
MHDA- 2024/04/09 06:45
CRDT- 2023/01/29 22:06
PHST- 2022/05/20 00:00 [received]
PHST- 2023/01/20 00:00 [revised]
PHST- 2023/01/21 00:00 [accepted]
PHST- 2024/04/09 06:45 [medline]
PHST- 2023/01/30 06:00 [pubmed]
PHST- 2023/01/29 22:06 [entrez]
AID - S1059-1311(23)00021-3 [pii]
AID - 10.1016/j.seizure.2023.01.015 [doi]
PST - ppublish
SO  - Seizure. 2024 Mar;116:151-155. doi: 10.1016/j.seizure.2023.01.015. Epub 2023 Jan 
      23.