Publications by authors named "Clotilde Rivier"

4Publications

Early-onset encephalopathy with paroxysmal movement disorders and epileptic seizures without hemiplegic attacks: About three children with novel ATP1A3 mutations.

Brain Dev 2018 Oct 31;40(9):768-774. Epub 2018 May 31.

Centre de Référence Déficience Intellectuelle de Causes Rares, Paris, France; APHP, Service de Neurologie Pédiatrique, Hôpital Armand Trousseau, Paris, France; APHP, Centre de Référence des Mouvements Anormaux de l'Enfant, Hôpital Armand Trousseau, Paris, France; Sorbonne Université, GRC n°19, Pathologies Congénitales du Cervelet-LeucoDystrophies, AP-HP, Hôpital Armand Trousseau, F-75012 Paris, France. Electronic address:

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S03877604183021
Publisher Site
http://dx.doi.org/10.1016/j.braindev.2018.05.008DOI Listing
October 2018

Molecular characterization of a cohort of 73 patients with infantile spasms syndrome.

Eur J Med Genet 2015 Feb 11;58(2):51-8. Epub 2014 Dec 11.

CRNL, CNRS UMR 5292, INSERM U1028, Lyon, France; Department of Genetics, Lyon University Hospital, Lyon, France; Claude Bernard Lyon I University, Lyon, France. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejmg.2014.11.007DOI Listing
February 2015

An SCN2A mutation in a family with infantile seizures from Madagascar reveals an increased subthreshold Na(+) current.

Epilepsia 2013 Sep 12;54(9):e117-21. Epub 2013 Jun 12.

Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tuebingen, Tuebingen, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/epi.12241DOI Listing
September 2013