PMID- 26279655
OWN - NLM
STAT- PubMed-not-MEDLINE
DCOM- 20150817
LR  - 20200929
IS  - 1661-8769 (Print)
IS  - 1661-8777 (Electronic)
IS  - 1661-8769 (Linking)
VI  - 6
IP  - 2
DP  - 2015 Jul
TI  - Recurrent Nonconvulsive Status Epilepticus in a Patient with Coffin-Lowry 
      Syndrome.
PG  - 91-5
LID - 10.1159/000430429 [doi]
AB  - Coffin-Lowry syndrome (CLS) is a rare neurodevelopmental condition caused by 
      heterogeneous mutations in the RPS6KA3 gene on the X chromosome, leading to 
      severe intellectual disability and dysmorphism in men, while women are carriers 
      and only weakly affected. CLS is well known for stimulus-induced drop episodes; 
      however, epilepsy is not commonly reported in this condition. We report on a CLS 
      patient presenting with recurrent episodes of nonconvulsive status epilepticus 
      (NCSE) with generalized epileptic activity, for which investigations did not find 
      any other cause than the patient's genetic condition. This case underlines that 
      the possibility of nonconvulsive epileptic seizures and status epilepticus 
      should, therefore, be considered in those patients. The treatable diagnosis of 
      NCSE may easily be overlooked, as symptoms can be unspecific.
FAU - Gschwind, Markus
AU  - Gschwind M
AD  - Department of Clinical Neuroscience, Centre Hospitalier Universitaire Vaudois, 
      University of Lausanne, Lausanne, Switzerland.
FAU - Foletti, Giovanni
AU  - Foletti G
AD  - Department of Clinical Neuroscience, Centre Hospitalier Universitaire Vaudois, 
      University of Lausanne, Lausanne, Switzerland ; Institution de Lavigny, Lavigny, 
      University of Zurich, Schlieren-Zurich, Geneva, Switzerland.
FAU - Baumer, Alessandra
AU  - Baumer A
AD  - Institute of Medical Genetics, University of Zurich, Schlieren-Zurich, Geneva, 
      Switzerland.
FAU - Bottani, Armand
AU  - Bottani A
AD  - Service of Genetic Medicine, Geneva University Hospitals, Geneva, Switzerland.
FAU - Novy, Jan
AU  - Novy J
AD  - Department of Clinical Neuroscience, Centre Hospitalier Universitaire Vaudois, 
      University of Lausanne, Lausanne, Switzerland.
LA  - eng
PT  - Case Reports
DEP - 20150519
PL  - Switzerland
TA  - Mol Syndromol
JT  - Molecular syndromology
JID - 101525192
PMC - PMC4521075
OTO - NOTNLM
OT  - Coffin-Lowry syndrome
OT  - Nonconvulsive status epilepticus
OT  - RPS6KA3 mutation c.575G>C (p.R192T)
OT  - Stimulus-induced drop episodes
EDAT- 2015/08/19 06:00
MHDA- 2015/08/19 06:01
PMCR- 2016/01/01
CRDT- 2015/08/18 06:00
PHST- 2015/03/16 00:00 [accepted]
PHST- 2015/08/18 06:00 [entrez]
PHST- 2015/08/19 06:00 [pubmed]
PHST- 2015/08/19 06:01 [medline]
PHST- 2016/01/01 00:00 [pmc-release]
AID - msy-0006-0091 [pii]
AID - 10.1159/000430429 [doi]
PST - ppublish
SO  - Mol Syndromol. 2015 Jul;6(2):91-5. doi: 10.1159/000430429. Epub 2015 May 19.