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Journal of Medical Genetics|April 3, 2021
Patients with <i>KCNH1</i>-related intellectual disability without distinctive features of Zimmermann-Laband/Temple-Baraitser syndromeMarion Aubert Mucca, Olivier Patat, Sandra Whalen, et al.
Human Mutation|September 11, 2008
TCF4 deletions in Pitt-Hopkins SyndromeIrina Giurgea, Chantal Missirian, Pierre Cacciagli, et al.
Annals of Clinical and Translational Neurology|February 23, 2018
Effect of desipramine on patients with breathing disorders in RETT syndromeJosette Mancini, Jean-Christophe Dubus, Elisabeth Jouve, et al.
Brain & Development|June 5, 2018
Early-onset encephalopathy with paroxysmal movement disorders and epileptic seizures without hemiplegic attacks: About three children with novel ATP1A3 mutationsPauline Marzin, Cyril Mignot, Nathalie Dorison, et al.
Brain : a Journal of Neurology|October 9, 2010
GPR56-related bilateral frontoparietal polymicrogyria: further evidence for an overlap with the cobblestone complexNadia Bahi-Buisson, Karine Poirier, Nathalie Boddaert, et al.
Human Molecular Genetics|April 26, 2013
Loss of function of KIAA2022 causes mild to severe intellectual disability with an autism spectrum disorder and impairs neurite outgrowthLionel Van Maldergem, Qingming Hou, Vera M Kalscheuer, et al.
American Journal of Medical Genetics. Part A|May 21, 2014
Severe presentation of WDR62 mutation: is there a role for modifying genetic factors?Cathryn J Poulton, Rachel Schot, Katja Seufert, et al.
Neurobiology of Disease|May 27, 2015
A recurrent KCNQ2 pore mutation causing early onset epileptic encephalopathy has a moderate effect on M current but alters subcellular localization of Kv7 channelsAffef Abidi, Jérôme J Devaux, Florence Molinari, et al.
Human Mutation|March 15, 2012
Rett networked database: an integrated clinical and genetic network of Rett syndrome databasesElisa Grillo, Laurent Villard, Angus Clarke, et al.
European Journal of Medical Genetics|January 29, 2022
The EPIGENE network: A French initiative to harmonize and improve the nationwide diagnosis of monogenic epilepsiesLionel Arnaud, Marie-Thérèse Abi Warde, Giulia Barcia, et al.
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