Identification of a Premature Termination Mutation in the Proline-Rich Transmembrane Protein 2 Gene in a Chinese Family with Febrile Seizures

Proposal for Revised Classification of Epilepsies and Epileptic Syndromes

Epilepsia · 1989 · 5.4K citations

Neurological Disorder, Medicine, Diagnosis +4

Experience with the International League Against Epilepsy Proposals for Classification of Epileptic Seizures and the Epilepsies and Epileptic Syndromes in a Pediatric Outpatient Epilepsy Clinic

Jorge Eslava‐Cobos, Daniel Naririo · Epilepsia · 1989 · 1.3K citations

Pediatric Epilepsy Clinic, Psychiatry, Pediatric Neurosurgery +9

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

Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia

Wan‐Jin Chen, Yu Lin, Zhi‐Qi Xiong et al. · Nature Genetics · 2011 · 477 citations

Transcriptional Regulation, Mendelian Disorder, Genetic Disorder +6

Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1

Arvid Suls, Peter Dedeken, Karolien Goffin et al. · Brain · 2008 · 340 citations · Full text

Neurological Disorder, Glucose Uptake, Social Sciences +16