Neonatal epilepsy syndromes and generalized epilepsy with febrile seizures plus (GEFS+).
Scheffer
Ingrid E
IE
Department of Medicine (Neurology), The University of Melbourne, Austin Health, Melbourne, Victoria. scheffer@unimelb.edu.au
Harkin
Louise A
LA
Dibbens
Leanne M
LM
Mulley
John C
JC
Berkovic
Samuel F
SF
D002675:Child, Preschool; D004831:Epilepsies, Myoclonic / Q000235:genetics; D020936:Epilepsy, Benign Neonatal / Q000175:diagnosis / Q000235:genetics*; D004829:Epilepsy, Generalized / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D018740:Genetic Heterogeneity; D006801:Humans; D007223:Infant; D051658:KCNQ2 Potassium Channel / Q000235:genetics; D051659:KCNQ3 Potassium Channel / Q000235:genetics; D008297:Male; D009154:Mutation; D062550:NAV1.1 Voltage-Gated Sodium Channel; D009419:Nerve Tissue Proteins / Q000235:genetics; D010641:Phenotype; D011963:Receptors, GABA-A / Q000235:genetics; D018080:Receptors, GABA-B / Q000235:genetics; D003294:Seizures, Febrile / Q000175:diagnosis / Q000235:genetics*; D015222:Sodium Channels / Q000235:genetics; D062547:Voltage-Gated Sodium Channel beta-1 Subunit
C464500:GABRD protein, human; C106350:GABRR2 protein, human; D051658:KCNQ2 Potassium Channel; C496914:KCNQ2 protein, human; D051659:KCNQ3 Potassium Channel; D062550:NAV1.1 Voltage-Gated Sodium Channel; D009419:Nerve Tissue Proteins; D011963:Receptors, GABA-A; D018080:Receptors, GABA-B; C568242:SCN1A protein, human; C470379:SCN1B protein, human; D015222:Sodium Channels; D062547:Voltage-Gated Sodium Channel beta-1 Subunit