Neurology · 2017 · 131 citations · 38 references
As 37/409 (9%) affected individuals have focal epilepsies, we suggest that GEFS+ be renamed genetic epilepsy with febrile seizures plus rather than generalized epilepsy with febrile seizures plus. The phenotypic overlap between GEFS+ and the classic generalized epilepsies is considerably greater than first thought. The clinical and molecular data suggest that the 2 major groups of generalized epilepsies share genetic determinants.
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Proposal for Revised Classification of Epilepsies and Epileptic Syndromes
Epilepsia · 1989 · 5.4K citations
Anne T. Berg, Samuel F. Berkovic, Martin J. Brodie et al. · Epilepsia · 2010 · 4.3K citations
Robert S. Fisher, J. Helen Cross, Jacqueline A. French et al. · Epilepsia · 2017 · 3.3K citations · Full text
Multiplex Targeted Sequencing Identifies Recurrently Mutated Genes in Autism Spectrum Disorders
Brian J. O’Roak, Laura Vives, Wenqing Fu et al. · Science · 2012 · 1.3K citations · Full text