Table 1 Demographics and clinical features of the 73 probands reported in this study

From: The landscape of epilepsy-related GATOR1 variants

  GATOR1 DEPDC5 NPRL2 NPRL3
Probands 73 63 3 7
Gender (male:female) 36:37 33:30 1:2 2:5
Epilepsy family history 40/73 (55%) 33/63 1/3 6/7
Inheritance     
 De novo 2/47 (4%) 2/40 0/1 0/6
 Inherited 45/47 (96%) 38/40 1/1 6/6
Age at sz onset (years) 4.4 (0–16) 4.4 (0–16) 1.5 (0–3.7) 5.7 (1–16)
Epilepsy phenotype     
 Sleep-related hypermotor epilepsy 26/73 (36%) 22/63 1/3 3/7
 Frontal lobe epilepsy 12/73 (16%) 9/63 1/3 2/7
 Temporal lobe epilepsy 1/73 (1%) 1/63 0/3 0/7
 Focal epilepsy (unspecified) 23/73 (32%) 21/63 0/3 2/7
 Infantile spasms 7/73 (10%) 6/63 1/3 0/7
 Generalized epilepsy 3/73 (4%) 3/63 0/3 0/7
 Focal febrile seizures 1/73 (1%) 2/63 0/3 0/7
Cognitive comorbidities     
 Normal 37/68 (54%) 30/59 0/2 7/7
 Language delay 10/68 (15%) 9/59 0/2 1/7
 Intellectual disability 18/68 (26%) 16/59 2/2 0/7
 Other deficits 7/68 (9%) 7/59 0/2 0/7
Psychiatric features     
 None 37/65 (57%) 30/56 2/2 5/7
 ADHD / attention deficit 10/65 (15%) 10/56 0/2 0/7
 ASD / autistic features 6/65 (9%) 6/56 0/2 0/7
 Oppositional disorder 12/65 (18%) 11/56 0/2 1/7
 Anxiety and/or depression 5/65 (8%) 5/56 0/2 0/7
 Others 5/65 (8%) 4/56 0/2 1/7
Neuroimaging     
 Normal 44/71 (62%) 37/61 1/3 6/7
 Brain abnormality 27/71 (38%) 24/61 2/3 1/7
 Malformations of cortical development 17/27 (63%) 15/24 2/2 0/1
  Focal cortical dysplasia 14/27 (52%) 12/24 2/2 0/1
  Hemimegalencephaly 1/27 (4%) 1/24 0/2 0/1
  Subcortical heterotopia 1/27 (4%) 1/24 0/2 0/1
  Hemispheric cortical dysplasia 1/27 (4%) 1/24 0/2 0/1
 Hippocampal sclerosis/atrophy 4/27 (15%) 4/24 0/2 0/1
Antiepileptics     
 Monotherapy 8/72 (11%) 7/62 0/3 1/7
 2 Antiepileptic drugs 15/72 (21%) 13/62 0/3 2/7
 ≥3 Antiepileptic drugs 49/72 (68%) 42/62 3/3 4/7
 Good outcome 33/71 (46%) 29/61 0/3 4/7
 Drug-resistant 38/71 (54%) 32/61 3/3 3/7
Surgery 11/73 (15%) 9/73 2/3 0/7
 Surgery outcome     
  Engel I 6/10 (60%) 5/8 1/2 0/0
  Engel II 2/10 (20%) 2/8 0/2 0/0
  Engel III 1/10 (10%) 0/8 1/2 0/0
  Engel IV 1/10 (10%) 1/8 0/2 0/0
SUDEP a 9/73 (12%) 8/63 0/3 1/7
Cancer 2/73 (3%) 1/63 0/3 1/7
  1. Sz seizures, ADHD attention-deficit/hyperactivity disorder, ASD autism spectrum disorder, Engel I free of disabling seizures, Engel II rare disabling seizures, Engel III worthwhile improvement, Engel IV no worthwhile improvement
  2. aSUDEP sudden unexpected death in epilepsy cases refer to probands or affected family members