Table 2 Epilepsy syndrome classification.

From: Cognitive performance and behavior across idiopathic/genetic epilepsies in children and adolescents

IGE/GGE IFE GE
n.f.s (n = 14)
CAE (n = 19)
JAE (n = 4)
JME (n = 9)
MAE (n = 7)
ELMA (n = 1)
EMA (n = 1)
BME (n = 1)
BECTS (n = 24)
ABPE (n = 2)
Monogenetic causes (n = 30)
TSC (n = 7), SCN1A (n = 6), CLN3 (n = 2), RORB (n = 1), SCN9A (n = 1), FASTDK2 (n = 1), FMR1 (n = 1), NPRL3 (n = 1), MECP2 (n = 1), FOXG1 (n = 1), CDLK5 (n = 1), KCNQ2 (n = 1), NRNX1 (n = 1), SLC13A5 (n = 1), GABRB3 (n = 1), DCX (n = 1), GLUT1 (n = 1), ADSL (n = 1)
Structural or numeric chromosomal causes (n = 9)
Ringchromosome 20 (n = 1), Deletion 18q22.1q23 (n = 1), Deletion 2p24.2 (n = 1), Deletion 15q13.3 (n = 1), Paternal deletion 15q11.2-q13 (n = 1)
Deletion 2p25.3p25, Duplication 6p21.1 (n = 1), Deletion 17q12, Duplication 17q21.31 (n = 1), Deletion 2q37 (n = 1), Duplication 5q35.3 (n = 1)
Others (n= 5)
clinical diagnosis of Dravet syndrome without proven mutations (n = 2), clinical diagnosis of GEFS + syndrome without proven mutations (n = 1), strong clinical suspicion of a genetic syndrome due to associated malformations but without proven genetic cause (n = 2)
  1. IGE/GGE, idiopathic/genetic generalized epilepsy; IFE, idiopathic focal epilepsy; GE, genetic epilepsy; n.f.s., not further specified; CAE, childhood absence epilepsy; JAE, Juvenile Absence Epilepsy; JME, Juvenile Myoclonic Epilepsy; MAE, Myoclonic Absence Epilepsy; ELMA, Epilepsy with Myoclonic Absences; EMA, Eyelid Myoclonia with Absences; BME, Benign Myoclonic Epilepsy; BECTS, Benign Epilepsy with Centro-Temporal Spikes; ABPE, Atypical benign partial epilepsy; TSC, Tuberous Sclerosis Complex; GEFS+, Genetic Epilepsy with Febrile Seizures+, all others are abbreviations of genes adhering to the HUGO Gene Nomenclature Committee’s guidelines39.