Showing results (11-20 of 172) with videos related to
Sort By:
Pageof 18
American Journal of Medical Genetics. Part A|June 9, 2005
Detection of genomic rearrangements by DHPLC: a prospective study of 90 patients with inherited peripheral neuropathies associated with 17p11.2 rearrangementsMourad Naïmi, Sandrine Tardieu, Christel Depienne, et al.Epilepsy Research|June 10, 2008
An unexpected EEG course in Dravet syndromeRima Nabbout, Isabelle Desguerre, Sandra Sabbagh, et al.Epilepsia|January 9, 2023
Insights into familial adult myoclonus epilepsy pathogenesis: How the same repeat expansion in six unrelated genes may lead to cortical excitabilityChristel Depienne, Arn M J M van den Maagdenberg, Theresa Kühnel, et al.European Journal of Human Genetics : EJHG|October 25, 2007
Mental deficiency in three families with SPG4 spastic paraplegiaPascale Ribaï, Christel Depienne, Estelle Fedirko, et al.The Journal of Neuroscience : the Official Journal of the Society for Neuroscience|December 21, 2007
GABA(A) receptor gamma 2 subunit mutations linked to human epileptic syndromes differentially affect phasic and tonic inhibitionEmmanuel Eugène, Christel Depienne, Stéphanie Baulac, et al.Journal of Neurology|March 27, 2015
Dalfampridine in hereditary spastic paraplegia: a prospective, open studyMatthieu Béreau, Mathieu Anheim, Jean-Baptiste Chanson, et al.Archives of Neurology|February 14, 2007
Two novel epilepsy-linked mutations leading to a loss of function of LGI1Elodie Chabrol, Cyprian Popescu, Isabelle Gourfinkel-An, et al.Archives of Neurology|July 16, 2008
A novel locus for generalized epilepsy with febrile seizures plus in French familiesStéphanie Baulac, Isabelle Gourfinkel-An, Philippe Couarch, et al.Tremor and Other Hyperkinetic Movements (New York, N.Y.)|November 11, 2016
Congenital Mirror Movements Due to RAD51: Cosegregation with a Nonsense Mutation in a Norwegian Pedigree and Review of the LiteratureOriane Trouillard, Jeanette Koht, Thorsten Gerstner, et al.Case Reports in Medicine|February 27, 2019
Dravet Syndrome in Lebanon: First Report on Cases with <i>SCN1A</i> MutationsSaada Alame, Eliane El-Houwayek, Caroline Nava, et al.Pageof 18