scholarly journals Praxis-induced reflex seizures in two Japanese cases with ring chromosome 20 syndrome

2020 ◽  
Vol 22 (2) ◽  
pp. 214-218 ◽  
Author(s):  
Hirokazu Yamagishi ◽  
Masahide Goto ◽  
Hitoshi Osaka ◽  
Mari Kuwajima ◽  
Kazuhiro Muramatsu ◽  
...  
2017 ◽  
Vol 48 (S 01) ◽  
pp. S1-S45
Author(s):  
A. Herting ◽  
T. Cloppenborg ◽  
A. Hofmann-Peters ◽  
T. Polster

Epilepsia ◽  
2014 ◽  
Vol 55 (3) ◽  
pp. 403-413 ◽  
Author(s):  
Anna Elisabetta Vaudano ◽  
Andrea Ruggieri ◽  
Aglaia Vignoli ◽  
Pietro Avanzini ◽  
Francesca Benuzzi ◽  
...  

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

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

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

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

2020 ◽  
Vol 38 (1) ◽  
pp. 19-27
Author(s):  
Hiroya Ono ◽  
Akihiko Ishiyama ◽  
Kenji Sugai ◽  
Eri Takeshita ◽  
Yuko Shimizu-Motohashi ◽  
...  

2009 ◽  
Vol 2 (1) ◽  
pp. 8
Author(s):  
Sofia Kitsiou-Tzeli ◽  
Emmanouil Manolakos ◽  
Magdalini Lagou ◽  
Katerina Anagnostopoulou ◽  
Maria Kontodiou ◽  
...  

2017 ◽  
Vol 04 (01) ◽  
pp. 087-089 ◽  
Author(s):  
Umesh Kalane ◽  
Chaitanya Datar ◽  
Shilpa Kalane

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.


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

Sign in / Sign up

Export Citation Format

Share Document