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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

PatientAgeSexTIQGeneMutationEpilepsySeizure control1MedicationPsychiatric diagnoses2
18.3M82TSC-2De novoFocal (M)YesVPA, OXC
29.4F<40TSC-2De novoFocal (N-M)NoVPA, LTG, VGBASD
39.5M107TSC-1FamilialNoNANAASD
410.1M<40TSC-2De novoFocal (M)NoVPA, FBMASD
510.7M107NMINAFocal (M)YesOXC
611.2M47TSC-2FamilialFocal (M)YesVPAASD
711.8F80TSC-1FamilialNoNANAASD
-12.6M49NMINAFocal (M)YesLEV, RAM
813.7F88TSC-1FamilialCRNANA
913.8F51NTNAFocal (M)NoOXCADD, MD
-14.0F63TSC-2De novoFocal (M)YesOXCSelective mutism
1014.4M<40TSC-2De novoFocal (N-M)NoVPAASD
1116.3F70TSC-2De novoNoNAESCASD, MD
1217.6F88TSC-2FamilialNoNAESCAnxiety, MD
1321.3M49TSC-2De novoFocal (M)NoLEV
  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