Sporadic Infantile Epileptic Encephalopathy Caused by Mutations in PCDH19 Resembles Dravet Syndrome but Mainly Affects Females

Christel Depienne, Delphine Bouteiller, Boris Keren, +22

PLoS Genetics

Mainly Affects FemalesDravet SyndromeMendelian DisorderGenetic DisorderMedicine +13

De novo mutations in HCN1 cause early infantile epileptic encephalopathy

Caroline Nava, Carine Dalle, Agnès Rastetter, +34

Nature Genetics

Genetic DisorderGeneticsNeuroscienceNeurologyNeuropathology +2

Screening for Genomic Rearrangements and Methylation Abnormalities of the 15q11-q13 Region in Autism Spectrum Disorders

Christel Depienne, Daniel Moreno‐De‐Luca, Delphine Héron, +19

Biological Psychiatry

Methylation AbnormalitiesAutism Spectrum DisordersMedicineGeneticsEpigenetic Change +9

Mechanisms for variable expressivity of inherited SCN1A mutations causing Dravet syndrome

Christel Depienne, Oriane Trouillard, Isabelle Gourfinkel‐An, +14

Journal of Medical Genetics

Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in females

Christel Depienne, Oriane Trouillard, Delphine Bouteiller, +23

Human Mutation

<i>ADCY5</i> -related dyskinesia

Donghui Chen, Aurélie Méneret, Jennifer Friedman, +28

Neurology

Parental mosaicism can cause recurrent transmission ofSCN1A mutations associated with severe myoclonic epilepsy of infancy

Christel Depienne, Alexis Arzimanoglou, Oriane Trouillard, +9

Human Mutation

STXBP1-related encephalopathy presenting as infantile spasms and generalized tremor in three patients

Cyril Mignot, Marie‐Laure Moutard, Oriane Trouillard, +11

Epilepsia

Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance

Ashley P.L. Marsh, Delphine Héron, Timothy J. Edwards, +50

Nature Genetics

Developmental BiologyMendelian DisorderGenetic DisorderGeneticsDegenerative Disease +4

The supplementary motor area modulates interhemispheric interactions during movement preparation

Quentin Welniarz, Cécile Galléa, Jean‐Charles Lamy, +19

Human Brain Mapping