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European Journal of Human Genetics : EJHG|April 24, 2018
A decision tree for the genetic diagnosis of deficiency of adenosine deaminase 2 (DADA2): a French reference centres experienceMélanie Rama, Claire Duflos, Isabelle Melki, et al.Movement Disorders : Official Journal of the Movement Disorder Society|March 12, 2026
Missense Variants in the A Isoform of FGF13 as a Novel Cause of Paroxysmal DyskinesiaCyril Mignot, Matthildi Athina Papathanasiou Terzi, Claudia Ravelli, 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.American Journal of Human Genetics|December 2, 2019
Loss of Oxidation Resistance 1, OXR1, Is Associated with an Autosomal-Recessive Neurological Disease with Cerebellar Atrophy and Lysosomal DysfunctionJulia Wang, Justine Rousseau, Emily Kim, et al.Journal of Neurology, Neurosurgery, and Psychiatry|July 27, 2012
Benign hereditary chorea: phenotype, prognosis, therapeutic outcome and long term follow-up in a large series with new mutations in the TITF1/NKX2-1 geneDomitille Gras, Laurence Jonard, Emmanuel Roze, et al.Epilepsy & Behavior : E&B|December 16, 2021
Adaptive behavior and psychiatric comorbidities in KCNB1 encephalopathyClaire Bar, Delphine Breuillard, Mathieu Kuchenbuch, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 13, 2018
Exome sequencing in congenital ataxia identifies two new candidate genes and highlights a pathophysiological link between some congenital ataxias and early infantile epileptic encephalopathiesStéphanie Valence, Emmanuelle Cochet, Christelle Rougeot, et al.Epilepsia|April 27, 2019
Clinical study of 19 patients with SCN8A-related epilepsy: Two modes of onset regarding EEG and seizuresJulien Denis, Nathalie Villeneuve, Pierre Cacciagli, et al.Nature Genetics|August 13, 2013
GRIN2A mutations in acquired epileptic aphasia and related childhood focal epilepsies and encephalopathies with speech and language dysfunctionGaetan Lesca, Gabrielle Rudolf, Nadine Bruneau, et al.Journal of Hepatology|May 21, 2014
Homozygous MTTP and APOB mutations may lead to hepatic steatosis and fibrosis despite metabolic differences in congenital hypocholesterolemiaMathilde Di Filippo, Philippe Moulin, Pascal Roy, et al.Pageof 9