PMID- 16806995
OWN - NLM
STAT- MEDLINE
DCOM- 20061017
LR  - 20141021
IS  - 1059-1311 (Print)
IS  - 1059-1311 (Linking)
VI  - 15
IP  - 6
DP  - 2006 Sep
TI  - Electroclinical evolution in ring chromosome 20 epilepsy syndrome: a case with 
      severe phenotypic features followed for 25 years.
PG  - 449-53
AB  - Intractable epilepsy and peculiar EEG patterns characterize ring chromosome 20 
      syndrome [r(20)], while dysmorphic features, mental retardation and behavioural 
      disturbances are widely variable. The clinical evolution of r(20) over time is 
      not well defined as relatively few cases have been reported. Here we describe a 
      patient with severe clinical features followed for a 25-year period. The patient 
      was subjected to clinical, psychometric and EEG evaluation twice a year from the 
      age of 21 years. Cytogenetic studies, using chromosome analysis and fluorescence 
      in situ hybridization (FISH) and several immunological investigations were 
      performed. Ring chromosome 20 was found in 50% of examined metaphases with the 
      deletion of subtelomeric regions 20p and 20q. Our patient presented with marked 
      dysmorphic features, severe mental retardation, tetraparesis, dysarthria and 
      intractable epilepsy with onset during the first year of life. During follow up, 
      EEG findings and clinical features progressively worsened: a progressive 
      disorganization of background EEG activity occurred and mental and motor 
      impairment evolved. The severity of clinical expression depended on the extent of 
      chromosomal deletion and on the haploinsufficiency of other important related 
      genetic loci due to ring instability. The progressive worsening of both clinical 
      and EEG features over a long period, which has also been reported by other 
      authors, further characterized this syndrome.
FAU - de Falco, F A
AU  - de Falco FA
AD  - Department of Neurological Sciences, Loreto Mare Hospital, Naples, Italy.
FAU - Olivieri, P
AU  - Olivieri P
FAU - de Falco, A
AU  - de Falco A
FAU - Concolino, D
AU  - Concolino D
FAU - Battaglia, F
AU  - Battaglia F
FAU - Verardi, R
AU  - Verardi R
FAU - Grande, G
AU  - Grande G
FAU - Stabile, M
AU  - Stabile M
LA  - eng
PT  - Case Reports
PT  - Journal Article
DEP - 20060627
PL  - England
TA  - Seizure
JT  - Seizure
JID - 9306979
SB  - IM
MH  - Abnormalities, Multiple/*genetics
MH  - Chromosomes, Human, Pair 20/*genetics
MH  - Electroencephalography
MH  - Epilepsy/*genetics
MH  - Facial Bones/abnormalities
MH  - Female
MH  - Humans
MH  - Intellectual Disability/*genetics
MH  - Middle Aged
MH  - *Ring Chromosomes
MH  - Syndrome
EDAT- 2006/06/30 09:00
MHDA- 2006/10/18 09:00
CRDT- 2006/06/30 09:00
PHST- 2004/10/26 00:00 [received]
PHST- 2006/03/09 00:00 [revised]
PHST- 2006/03/10 00:00 [accepted]
PHST- 2006/06/30 09:00 [pubmed]
PHST- 2006/10/18 09:00 [medline]
PHST- 2006/06/30 09:00 [entrez]
AID - S1059-1311(06)00063-X [pii]
AID - 10.1016/j.seizure.2006.03.004 [doi]
PST - ppublish
SO  - Seizure. 2006 Sep;15(6):449-53. doi: 10.1016/j.seizure.2006.03.004. Epub 2006 Jun 
      27.