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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