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
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