Improvement of epilepsy with lacosamide in a patient with ring chromosome 20 syndrome

2020 ◽  
Vol 42 (6) ◽  
pp. 473-476 ◽  
Author(s):  
Takahiro Tayama ◽  
Tatsuo Mori ◽  
Aya Goji ◽  
Yoshihiro Toda ◽  
Shoji Kagami
Keyword(s):  
Ring Chromosome ◽  
Chromosome 20

Dramatic Onset of Focal Seizures: Differentiating Structural Focal Epilepsy from Ring Chromosome 20

2017 ◽  
Vol 48 (S 01) ◽  
pp. S1-S45
Author(s):  
A. Herting ◽  
T. Cloppenborg ◽  
A. Hofmann-Peters ◽  
T. Polster
Keyword(s):  
Focal Epilepsy ◽  
Ring Chromosome ◽  
Focal Seizures ◽  
Chromosome 20

Epilepsy-related brain networks in ring chromosome 20 syndrome: An EEG-fMRI study

Epilepsia ◽  
2014 ◽  
Vol 55 (3) ◽  
pp. 403-413 ◽  
Author(s):  
Anna Elisabetta Vaudano ◽  
Andrea Ruggieri ◽  
Aglaia Vignoli ◽  
Pietro Avanzini ◽  
Francesca Benuzzi ◽  
...  
Keyword(s):  
Brain Networks ◽  
Ring Chromosome ◽  
Chromosome 20 ◽  
Fmri Study

scholarly journals Ring chromosome 20 syndrome with intractable epilepsy

2007 ◽  
Vol 47 (5) ◽  
pp. 343-346
Author(s):  
Asude Alpman ◽  
Gul Serdaroglu ◽  
Ozgur Cogulu ◽  
Hasan Tekgul ◽  
Sarenur Gokben ◽  
...  
Keyword(s):  
Intractable Epilepsy ◽  
Ring Chromosome ◽  
Chromosome 20

Early Pattern of Epilepsy in the Ring Chromosome 20 Syndrome

Epilepsia ◽  
2006 ◽  
Vol 47 (3) ◽  
pp. 543-549 ◽  
Author(s):  
Dorothee Ville ◽  
Anna Kaminska ◽  
Nadia Bahi-Buisson ◽  
Arnaud Biraben ◽  
Perrine Plouin ◽  
...  
Keyword(s):  
Ring Chromosome ◽  
Chromosome 20

Epilepsy in the ring chromosome 20

2012 ◽  
pp. 51-55
Author(s):  
Anca Pasnicu ◽  
Patrick Chauvel ◽  
Arnaud Biraben
Keyword(s):  
Ring Chromosome ◽  
Chromosome 20

scholarly journals Ring chromosome 20:further delineation of the epilepsy phenotype

2020 ◽  
pp. 96-96
Author(s):  
Milan Borkovic ◽  
Goran Cuturilo ◽  
Natasa Cerovac
Keyword(s):  
Ring Chromosome ◽  
Chromosome 20

The Ictal EEG Findings of Non-convulsive Seizures in Ring Chromosome 20 Syndrome

2020 ◽  
Vol 38 (1) ◽  
pp. 19-27
Author(s):  
Hiroya Ono ◽  
Akihiko Ishiyama ◽  
Kenji Sugai ◽  
Eri Takeshita ◽  
Yuko Shimizu-Motohashi ◽  
...  
Keyword(s):  
Ring Chromosome ◽  
Chromosome 20 ◽  
Ictal Eeg ◽  
Convulsive Seizures

scholarly journals Characterization of a prenatally assessed de novo supernumerary minute ring chromosome 20 in a phenotypically normal male

2009 ◽  
Vol 2 (1) ◽  
pp. 8
Author(s):  
Sofia Kitsiou-Tzeli ◽  
Emmanouil Manolakos ◽  
Magdalini Lagou ◽  
Katerina Anagnostopoulou ◽  
Maria Kontodiou ◽  
...  
Keyword(s):  
De Novo ◽  
Ring Chromosome ◽  
Normal Male ◽  
Chromosome 20

scholarly journals Ring chromosome 20 syndrome – A rare chromosomal cause of refractory epilepsy in children

2017 ◽  
Vol 04 (01) ◽  
pp. 087-089 ◽  
Author(s):  
Umesh Kalane ◽  
Chaitanya Datar ◽  
Shilpa Kalane
Keyword(s):  
Chromosomal Abnormalities ◽  
Refractory Epilepsy ◽  
Genetic Disorders ◽  
Epileptiform Activity ◽  
Intractable Epilepsy ◽  
Ring Chromosome ◽  
Normal Karyotype ◽  
Epileptiform Discharges ◽  
Chromosome 20 ◽  
Work Up

AbstractGenetic disorders and chromosomal abnormalities have been shown to represent 2–3% of all cases of epilepsy. Ring chromosome 20 syndrome is a rare chromosomal abnormality and a rare cause of intractable epilepsy. Exact prevalence of ring chromosome 20 is not known. We report a case of a 10-year old boy who had had intractable epilepsy since 2 years of age. Birth history was insignificant and there was no obvious dysmorphism. His motor milestones were normal but cognition and speech were delayed. Electroencephalography showed progressive worsening from initial bi-frontal epileptiform activity to generalized discharges. Neuroimaging and metabolic work up was normal. Karyotype study showed ring chromosome 20. Diagnosis of ring chromosome 20 or r(20) syndrome was made. Ring chromosome 20 syndrome is a rare cause of refractory epilepsy A patient who present with intractable epilepsy with frontal epileptiform discharges, mental developmental delay, without dysmorphic features should be suspected of chromosomal abnormalities especially ring chromosome 20.

Epilepsy in ring chromosome 20 syndrome

2016 ◽  
Vol 128 ◽  
pp. 83-93 ◽  
Author(s):  
Aglaia Vignoli ◽  
Francesca Bisulli ◽  
Francesca Darra ◽  
Massimo Mastrangelo ◽  
Carmen Barba ◽  
...  
Keyword(s):  
Ring Chromosome ◽  
Chromosome 20
Sign in / Sign up

Export Citation Format

Share Document