PRRT2 Mutations Cause Benign Familial Infantile Epilepsy and Infantile Convulsions with Choreoathetosis Syndrome

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Proteomic Technology, Functional Genomics, Interactomics +13

Easy calculations of lod scores and genetic risks on small computers.

G.M. Lathrop, J.-M. Lalouel · PubMed · 1984 · 1.5K citations

Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel ß1 subunit gene SCN1B

Robyn H. Wallace, Dao Wen Wang, Rita Singh et al. · Nature Genetics · 1998 · 1K citations

Neurophysiology, Genetic Disorder, Genetics +9

Deep sequencing reveals 50 novel genes for recessive cognitive disorders

Hossein Najmabadi, Hao Hu, Masoud Garshasbi et al. · Nature · 2011 · 975 citations

Neurodegenerative Diseases, Recessive Cognitive Disorders, Genetic Disorder +6

Mutant GABAA receptor γ2-subunit in childhood absence epilepsy and febrile seizures

Robyn H. Wallace, Carla Marini, Steven Petrou et al. · Nature Genetics · 2001 · 781 citations

Neurobiology Of Disease, Febrile Seizures, Neuropharmacology +6