Revised terminology and concepts for organization of seizures and epilepsies: Report of the ILAE Commission on Classification and Terminology, 2005–2009

Anne T. Berg, Samuel F. Berkovic, Martin J. Brodie, +11

Epilepsia

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Patterns and rates of exonic de novo mutations in autism spectrum disorders

Benjamin M. Neale, Yan Kou, Li Liu, +56

Nature

Neurodevelopmental DisordersAutism Spectrum DisordersSyndromic AutismGeneticsGenetic Disorder +6

Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability

Joep de Ligt, Marjolein H. Willemsen, Bregje W.M. van Bon, +14

New England Journal of Medicine

Multiplex Targeted Sequencing Identifies Recurrently Mutated Genes in Autism Spectrum Disorders

Brian J. O’Roak, Laura Vives, Wenqing Fu, +23

Science

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study

Anita Rauch, Dagmar Wieczorek, Elisabeth Graf, +34

The Lancet

Genetic MutationsMendelian DisorderGenetic DisorderGeneticsFragile X Spectrum +5

Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2

Andrew Escayg, Bryan T. MacDonald, Miriam H. Meisler, +9

Nature Genetics

Neuronal Sodium ChannelChannelopathiesMolecular NeuroscienceMolecular PhysiologyNeurophysiology +9

A de novo paradigm for mental retardation

Lisenka E.L.M. Vissers, Joep de Ligt, Christian Gilissen, +12

Nature Genetics

Cognitive SciencePsychiatrySyndromic AutismSchizophreniaAutism +7

Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes

Sabine Endele, Georg Rosenberger, Kirsten Geider, +25

Nature Genetics

Developmental BiologyMolecular NeuroscienceBrain DevelopmentNeuroanatomyGenetics +11

<i>KCNQ2</i> encephalopathy: Emerging phenotype of a neonatal epileptic encephalopathy

Sarah Weckhuysen, Simone Mandelstam, Arvid Suls, +20

Annals of Neurology

Genome-Wide Copy Number Variation in Epilepsy: Novel Susceptibility Loci in Idiopathic Generalized and Focal Epilepsies

Heather C. Mefford, Hiltrud Muhle, P Ostertag, +13

PLoS Genetics

Genome-wide Association StudyAllelic VariantGenetic DisorderMedicineGenetics +11