Dissecting the genetic basis of focal cortical dysplasia: a large cohort study

Sara Baldassari, Théo Ribierre, Elise Marsan, +10

Acta Neuropathologica

Myoclonus–dystonia

Emmanuel Roze, Emmanuelle Apartis, F. Clot, +20

Neurology

Phenotype and genotype in 52 patients with Rubinstein–Taybi syndrome caused by <i>EP300</i> mutations

Patricia Fergelot, Martine van Belzen, Julien Van‐Gils, +48

American Journal of Medical Genetics Part A

A common pattern of brain MRI imaging in mitochondrial diseases with complex I deficiency

Anne-Sophie Lèbre, Marlène Rio, L. Faivre d'Arcier, +23

Journal of Medical Genetics

Novel<i>KCNQ2</i>and<i>KCNQ3</i>Mutations in a Large Cohort of Families with Benign Neonatal Epilepsy: First Evidence for an Altered Channel Regulation by Syntaxin-1A

Maria Virginia Soldovieri, Nadia Boutry‐Kryza, Mathieu Milh, +18

Human Mutation

GeneticsSynaptic TransmissionKcnq2 EncephalopathyNeurotransmissionDisease Gene Identification +20

Similar early characteristics but variable neurological outcome of patients with a de novo mutation of KCNQ2

Mathieu Milh, Nadia Boutry‐Kryza, Julie Sutera-Sardo, +28

Orphanet Journal of Rare Diseases

Deep brain stimulation is effective in pediatric patients with GNAO1 associated severe hyperkinesia

Anne Koy, Victoria González, Kerstin Becker, +20

Journal of the Neurological Sciences

Deep Brain StimulationNeurobiology Of DiseaseNeuromodulation (Medicine)Pediatric NeurosurgeryNeurophysiology +8

Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders

Caroline Nava, Boris Keren, Cyril Mignot, +18

European Journal of Human Genetics

Prospective Diagnostic AnalysisPsychiatryAutism Spectrum DisordersMedicineGenetics +5

A case of fatal Type I congenital disorders of glycosylation (CDG I) associated with low dehydrodolichol diphosphate synthase (DHDDS) activity

Sahar Sabry, Sandrine Vuillaumier‐Barrot, E. Mintet, +9

Orphanet Journal of Rare Diseases

Genetic variants in components of the NALCN–UNC80–UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies)

Nuria C. Bramswig, Aida M. Bertoli‐Avella, Beate Albrecht, +42

Human Genetics

ChannelopathiesGenetic VariantsGenetic DisorderGeneticsMolecular Biology +6