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American Journal of Medical Genetics. Part A|September 24, 2018
Further delineation of the clinical spectrum of de novo TRIM8 truncating mutationsMirna Assoum, Matthew A Lines, Orly Elpeleg, et al.
Archives of Neurology|August 12, 2009
LIS1-related isolated lissencephaly: spectrum of mutations and relationships with malformation severityYoann Saillour, Nathalie Carion, Chloé Quelin, et al.
Brain : a Journal of Neurology|September 19, 2019
KCNT1 epilepsy with migrating focal seizures shows a temporal sequence with poor outcome, high mortality and SUDEPMathieu Kuchenbuch, Giulia Barcia, Nicole Chemaly, et al.
Plos One|February 27, 2016
A Novel Analog Reasoning Paradigm: New Insights in Intellectually Disabled PatientsAurore Curie, Amandine Brun, Anne Cheylus, et al.
Science Translational Medicine|January 7, 2011
Epigenetic modification of the FMR1 gene in fragile X syndrome is associated with differential response to the mGluR5 antagonist AFQ056Sébastien Jacquemont, Aurore Curie, Vincent des Portes, et al.
Prenatal Diagnosis|May 13, 2023
Abnormalities of the corpus callosum. Can prenatal imaging predict the genetic status? Correlations between imaging phenotype and genotypeToan Nguyen, Solveig Heide, Lucie Guilbaud, et al.
Annals of Neurology|April 10, 2018
The epilepsy phenotypic spectrum associated with a recurrent CUX2 variantNicolas Chatron, Rikke S Møller, Neena L Champaigne, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|June 8, 2021
CACNA1A-associated epilepsy: Electroclinical findings and treatment response on seizures in 18 patientsMarie Le Roux, Magalie Barth, Sophie Gueden, et al.
Human Mutation|June 5, 2010
Type I hyperprolinemia: genotype/phenotype correlationsAudrey Guilmatre, Solenn Legallic, Gary Steel, et al.
Molecular Autism|October 26, 2019
Disruption of PHF21A causes syndromic intellectual disability with craniofacial anomalies, epilepsy, hypotonia, and neurobehavioral problems including autismHyung-Goo Kim, Jill A Rosenfeld, Daryl A Scott, et al.
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