PMID- 34055363
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20210601
IS  - 2053-8855 (Print)
IS  - 2053-8855 (Electronic)
IS  - 2053-8855 (Linking)
VI  - 2021
IP  - 5
DP  - 2021 May
TI  - DEPDC5 variant in focal cortical dysplasia: a case report and review of the 
      literature.
PG  - omab027
LID - 10.1093/omcr/omab027 [doi]
LID - omab027
AB  - Germline and 2-hit brain somatic variants in DEPDC5 gene, a negative regulator of 
      the mammalian target of rapamycin (mTOR) pathway, are increasingly recognized in 
      patients with focal cortical dysplasia (FCD). Next-generation targeted sequencing 
      identified a heterozygous germline variant in DEPDC5 gene (c.3241A>C, 
      p.Thr1081Pro), classified as of unknown significance, in a patient with clinical 
      features compatible with DEPDC5 phenotype (FCD, focal epilepsy, 
      attention-deficit/hyperactivity disorder and borderline intellectual 
      functioning). This missense variant has previously been reported in two other 
      epileptic patients. Although interpretation of missense variants remains a 
      challenge, DEPDC5 variants in patients with FCD and epilepsy cannot be neglected. 
      Null variants were the most frequently reported in FCD patients, but missense 
      variants have been described as well. The recognition of DEPDC5 phenotype and the 
      appropriate interpretation of the detected variants are essential, since it may 
      have important treatment implications in the near future, namely the use of mTOR 
      inhibitors.
CI  - (c) The Author(s) 2021. Published by Oxford University Press. All rights reserved. 
      For Permissions, please email: journals.permissions@oup.com.
FAU - Jesus-Ribeiro, Joana
AU  - Jesus-Ribeiro J
AD  - Epilepsy and Sleep Monitoring Unit, Neurology Department, Coimbra University 
      Hospital Center, Coimbra 3000, Portugal.
AD  - iCBR/CIMAGO, Faculty of Medicine, University of Coimbra, Coimbra 3000, Portugal.
AD  - Faculty of Medicine, University of Coimbra, Coimbra 3000, Portugal.
FAU - Pereira, Cristina
AU  - Pereira C
AD  - Faculty of Medicine, University of Coimbra, Coimbra 3000, Portugal.
AD  - Pediatric Neurology of Child Development Center, Pediatric Hospital, Coimbra 
      University Hospital Center, Coimbra 3000, Portugal.
FAU - Robalo, Conceicao
AU  - Robalo C
AD  - Pediatric Neurology of Child Development Center, Pediatric Hospital, Coimbra 
      University Hospital Center, Coimbra 3000, Portugal.
FAU - Pereira, Daniela J
AU  - Pereira DJ
AD  - Neuroradiology Department, Coimbra University Hospital Center, Coimbra 3000, 
      Portugal.
FAU - Duro, Diana
AU  - Duro D
AD  - Faculty of Medicine, University of Coimbra, Coimbra 3000, Portugal.
AD  - Neurology Department, Coimbra University Hospital Center, Coimbra 3000, Portugal.
FAU - Ramos, Fabiana
AU  - Ramos F
AD  - Medical Genetics Unit, Pediatric Hospital, Coimbra University Hospital Center, 
      Coimbra 3000, Portugal.
FAU - Freire, Antonio
AU  - Freire A
AD  - Faculty of Medicine, University of Coimbra, Coimbra 3000, Portugal.
AD  - Neurology Department, Luz Hospital, Coimbra 3000, Portugal.
FAU - Melo, Joana B
AU  - Melo JB
AD  - iCBR/CIMAGO, Faculty of Medicine, University of Coimbra, Coimbra 3000, Portugal.
AD  - Laboratory of Cytogenetics and Genomics, Faculty of Medicine, University of 
      Coimbra, Coimbra 3000, Portugal.
LA  - eng
PT  - Case Reports
DEP - 20210524
PL  - England
TA  - Oxf Med Case Reports
JT  - Oxford medical case reports
JID - 101642070
PMC - PMC8143668
EDAT- 2021/06/01 06:00
MHDA- 2021/06/01 06:01
PMCR- 2021/05/24
CRDT- 2021/05/31 06:13
PHST- 2020/12/22 00:00 [received]
PHST- 2021/01/29 00:00 [revised]
PHST- 2021/03/20 00:00 [accepted]
PHST- 2021/05/31 06:13 [entrez]
PHST- 2021/06/01 06:00 [pubmed]
PHST- 2021/06/01 06:01 [medline]
PHST- 2021/05/24 00:00 [pmc-release]
AID - omab027 [pii]
AID - 10.1093/omcr/omab027 [doi]
PST - epublish
SO  - Oxf Med Case Reports. 2021 May 24;2021(5):omab027. doi: 10.1093/omcr/omab027. 
      eCollection 2021 May.