PMID- 29414555
OWN - NLM
STAT- MEDLINE
DCOM- 20190321
LR  - 20190321
IS  - 1525-5069 (Electronic)
IS  - 1525-5050 (Linking)
VI  - 80
DP  - 2018 Mar
TI  - Specificity of electroclinical features in the diagnosis of ring chromosome 20.
PG  - 215-220
LID - S1525-5050(17)30560-7 [pii]
LID - 10.1016/j.yebeh.2017.12.001 [doi]
AB  - BACKGROUND: Ring chromosome 20 (R20) syndrome is a chromosomal disorder 
      characterized mainly by drug-resistant frontal lobe seizures, recurrent 
      nonconvulsive status epilepticus (NCSE), and typical EEG features. The aim of 
      this study was to investigate if this triad is common and specific to all 
      patients with R20. METHODS: In this cross-sectional study (from 2000 to 2011), we 
      selected patients who fulfilled at least two out of three criteria: 
      drug-resistant frontal lobe seizures, recurrent NCSE, and characteristic 
      electroencephalography (EEG) features. In all patients, diagnosis was based on 
      karyotype analysis of at least 100 metaphases. RESULTS: We identified 36 patients 
      who met at least two of the selected criteria: six patients (16.7%) with R20 and 
      30 (83.3%) without R20 (non-R20). All patients with R20 met all three criteria. 
      Eleven (36.7%) patients without R20, however, also displayed the full triad. In 
      19 patients without R20 (63.3%), one of the three clinical features was missing: 
      frontal lobe seizures were not resistant to antiepileptic drugs (AED) in four 
      (13.3%), recurrent NCSE was missing in six (20%), and nine (30%) patients did not 
      have typical EEG features. Based on this data, specificity was 63.3%, positive 
      predictive value was 35.3%, and sensitivity and negative predictive values were 
      100%. Additionally, a review of all publications describing the R20 phenotype 
      revealed that 81.98% of patients with R20 display the full electroclinical triad. 
      CONCLUSIONS: In our study, all patients with R20 displayed the three 
      electroclinical characteristics. This is in line with previous reports 
      (presenting high sensitivity and negative predictive value). However, these 
      features can also be observed in other epilepsies and are not specific to R20. 
      Our findings suggest that in the presence of the full triad of symptoms, 
      karyotype analysis focused on chromosome 20 should be conducted.
CI  - Copyright (c) 2017 Elsevier Inc. All rights reserved.
FAU - Gago-Veiga, A B
AU  - Gago-Veiga AB
AD  - Epilepsy Unit, Department of Neurology, Hospital Universitario de La Princesa, 
      Diego de Leon 62, 28006 Madrid, Spain.
FAU - Toledano, R
AU  - Toledano R
AD  - Epilepsy Program, Department of Neurology, Hospital Ruber International, La Maso 
      38, 28034 Madrid, Spain.
FAU - Garcia-Morales, I
AU  - Garcia-Morales I
AD  - Epilepsy Program, Department of Neurology, Hospital Ruber International, La Maso 
      38, 28034 Madrid, Spain.
FAU - Perez-Jimenez, M A
AU  - Perez-Jimenez MA
AD  - Epilepsy Monitoring Unit, Clinical Neurophysiology Department, Nino Jesus 
      Pediatric University Hospital, Menendez Pelayo 65, 28009 Madrid, Spain.
FAU - Bernar, J
AU  - Bernar J
AD  - Department of Genetics, Hospital Ruber International, La Maso 38, 28034 Madrid, 
      Spain.
FAU - Gil-Nagel, A
AU  - Gil-Nagel A
AD  - Epilepsy Program, Department of Neurology, Hospital Ruber International, La Maso 
      38, 28034 Madrid, Spain. Electronic address: agnagel@ruberinternacional.es.
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20180203
PL  - United States
TA  - Epilepsy Behav
JT  - Epilepsy & behavior : E&B
JID - 100892858
RN  - Ring Chromosome 20 Syndrome
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - Child
MH  - Chromosome Disorders/*genetics/physiopathology
MH  - Chromosomes, Human, Pair 20/*genetics
MH  - Cross-Sectional Studies
MH  - Cytogenetics
MH  - *Electroencephalography
MH  - Epilepsy/diagnosis/genetics
MH  - Female
MH  - Frontal Lobe
MH  - Humans
MH  - Karyotyping
MH  - Male
MH  - Predictive Value of Tests
MH  - *Ring Chromosomes
MH  - Seizures/*diagnosis/genetics
MH  - Sensitivity and Specificity
MH  - Status Epilepticus/*diagnosis/genetics
OTO - NOTNLM
OT  - Drug-resistant epilepsy
OT  - EEG
OT  - Frontal lobe seizures
OT  - Nonconvulsive status epilepticus
OT  - Ring chromosome 20
EDAT- 2018/02/08 06:00
MHDA- 2019/03/22 06:00
CRDT- 2018/02/08 06:00
PHST- 2017/07/11 00:00 [received]
PHST- 2017/12/01 00:00 [revised]
PHST- 2017/12/01 00:00 [accepted]
PHST- 2018/02/08 06:00 [pubmed]
PHST- 2019/03/22 06:00 [medline]
PHST- 2018/02/08 06:00 [entrez]
AID - S1525-5050(17)30560-7 [pii]
AID - 10.1016/j.yebeh.2017.12.001 [doi]
PST - ppublish
SO  - Epilepsy Behav. 2018 Mar;80:215-220. doi: 10.1016/j.yebeh.2017.12.001. Epub 2018 
      Feb 3.