Skip to main content

Table 1 Cohort characteristics

From: Effects of bumetanide on neurodevelopmental impairments in patients with tuberous sclerosis complex: an open-label pilot study

Patient

Age

Sex

TIQ

Gene

Mutation

Epilepsy

Seizure control1

Medication

Psychiatric diagnoses2

1

8.3

M

82

TSC-2

De novo

Focal (M)

Yes

VPA, OXC

–

2

9.4

F

<40

TSC-2

De novo

Focal (N-M)

No

VPA, LTG, VGB

ASD

3

9.5

M

107

TSC-1

Familial

No

NA

NA

ASD

4

10.1

M

<40

TSC-2

De novo

Focal (M)

No

VPA, FBM

ASD

5

10.7

M

107

NMI

NA

Focal (M)

Yes

OXC

–

6

11.2

M

47

TSC-2

Familial

Focal (M)

Yes

VPA

ASD

7

11.8

F

80

TSC-1

Familial

No

NA

NA

ASD

-

12.6

M

49

NMI

NA

Focal (M)

Yes

LEV, RAM

–

8

13.7

F

88

TSC-1

Familial

CR

NA

NA

–

9

13.8

F

51

NT

NA

Focal (M)

No

OXC

ADD, MD

-

14.0

F

63

TSC-2

De novo

Focal (M)

Yes

OXC

Selective mutism

10

14.4

M

<40

TSC-2

De novo

Focal (N-M)

No

VPA

ASD

11

16.3

F

70

TSC-2

De novo

No

NA

ESC

ASD, MD

12

17.6

F

88

TSC-2

Familial

No

NA

ESC

Anxiety, MD

13

21.3

M

49

TSC-2

De novo

Focal (M)

No

LEV

–

  1. Abbreviations: ASD autism spectrum disorder, F female, M male, TIQ total intelligence quotient, NA not applicable, NT not tested, NMI no mutation identified, CR complete remission, ESC escitalopram, OXC oxcarbazepine, VPA valproic acid, FBM felbamate, LEV levetiracetam, LTG lamotrigine, VGB vigabatrin, RAM Ramipril, N-M non-motor, MD mood disorder
  2. Note: The dashes in the first column represent 2 patients that did not complete the study and were not included in analyses
  3. 1Seizure-free for > 1 year
  4. 2Expert clinical diagnoses