Infantile Spasms Is Associated with Deletion of the MAGI2 Gene on Chromosome 7q11.23-q21.11

Detection of large-scale variation in the human genome

A. John Iafrate, Lars Feuk, Miguel N. Rivera et al. · Nature Genetics · 2004 · 2.9K citations

Life Sciences, Bioinformatics, Genetics +14

Structural Variation of Chromosomes in Autism Spectrum Disorder

Christian R. Marshall, Abdul Noor, John B. Vincent et al. · The American Journal of Human Genetics · 2008 · 1.8K citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Stargazin regulates synaptic targeting of AMPA receptors by two distinct mechanisms

Lu Chen, Dane M. Chetkovich, Ronald S. Petralia et al. · Nature · 2000 · 1.1K citations

Life Sciences, Neurobiology, Neuroscience +14

Long-Term Prognosis of Seizures with Onset in Childhood

Matti Sillanpää, Merja Jalava, Olli Kaleva et al. · New England Journal of Medicine · 1998 · 725 citations · Full text

Medicine, Neurology, Pediatrics +10

Mutations of CDKL5 Cause a Severe Neurodevelopmental Disorder with Infantile Spasms and Mental Retardation

Linda S. Weaving, John Christodoulou, Sarah Williamson et al. · The American Journal of Human Genetics · 2004 · 500 citations · Full text

Medicine, Genetics, Molecular Genetics +14