Research & Literature

Complications of mammalian target of rapamycin inhibitor anticancer treatment among patients with tuberous sclerosis complex are common and occasionally life-threatening.

Trelinska J, Dachowska I, Kotulska K, et al.

Anti-cancer drugs 2015; (26(4)):437-42 doi:10.1097/CAD.0000000000000207.

Tuberous Sclerosis Complex: new criteria for diagnostic work-up and management.

Samueli S, Abraham K, Dressler A, et al.

Wiener klinische Wochenschrift 2015; (127(15-16)):619-30 doi:10.1007/s00508-015-0758-y.

Erk activation as a possible mechanism of transformation of subependymal nodule into subependymal giant cell astrocytoma.

Siedlecka M, Szlufik S, Grajkowska W, et al.

Folia neuropathologica 2015; (53(1)):8-14 doi:10.5114/fn.2015.49969.

Targeted Next Generation Sequencing reveals previously unidentified TSC1 and TSC2 mutations.

Nellist M, Brouwer RW, Kockx CE, et al.

BMC medical genetics 2015; (16()):10 doi:10.1186/s12881-015-0155-4.

Neurological and neuropsychiatric aspects of tuberous sclerosis complex.

Curatolo P, Moavero R, de Vries PJ

The Lancet. Neurology 2015; (14(7)):733-45.

Tuberous Sclerosis Complex: State-of-the-Art Review with a Focus on Pulmonary Involvement.

von Ranke FM, Zanetti G, e Silva JL, et al.

Lung 2015; (193(5)):619-27 doi:10.1007/s00408-015-9750-6.

Tuberous sclerosis complex presenting as pulmonary lymphangioleiomyomatosis--a clinicoradiological diagnosis.

Gupta K, Goyal A, Saggar K, Banerjee A

The Pan African medical journal 2015; (20()):207 doi:10.11604/pamj.2015.20.207.5490.

Tuberous sclerosis complex.

Islam MP, Roach ES

Handbook of clinical neurology 2015; (132()):97-109.

Update on the Diagnosis and Management of Renal Angiomyolipoma.

Flum AS, Hamoui N, Said MA, et al.

The Journal of urology 2016; (195(4 Pt 1)):834-46.

Variants Within TSC2 Exons 25 and 31 Are Very Unlikely to Cause Clinically Diagnosable Tuberous Sclerosis.

Ekong R, Nellist M, Hoogeveen-Westerveld M, et al.

Human mutation 2016; (37(4)):364-70 doi:10.1002/humu.22951.

Subependymal giant cell astrocytoma (SEGA): a case report and review of the literature.

Tahiri Elousrouti L, Lamchahab M, Bougtoub N, et al.

Journal of medical case reports 2016; (10()):35 doi:10.1186/s13256-016-0818-6.

Structural Basis of the Interaction between Tuberous Sclerosis Complex 1 (TSC1) and Tre2-Bub2-Cdc16 Domain Family Member 7 (TBC1D7).

Qin J, Wang Z, Hoogeveen-Westerveld M, et al.

The Journal of biological chemistry 2016; (291(16)):8591-601 doi:10.1074/jbc.M115.701870.

Women with TSC: Relationship between Clinical, Lung Function and Radiological Features in a Genotyped Population Investigated for Lymphangioleiomyomatosis.

Di Marco F, Terraneo S, Imeri G, et al.

PloS one 2016; (11(5)):e0155331 doi:10.1371/journal.pone.0155331.

Long-Term Use of Everolimus in Patients with Tuberous Sclerosis Complex: Final Results from the EXIST-1 Study.

Franz DN, Belousova E, Sparagana S, et al.

PloS one 2016; (11(6)):e0158476 doi:10.1371/journal.pone.0158476.

Ophthalmic manifestations of tuberous sclerosis: a review.

Hodgson N, Kinori M, Goldbaum MH, Robbins SL

Clinical & experimental ophthalmology 2017; (45(1)):81-86 doi:10.1111/ceo.12806.

Review of the Tuberous Sclerosis Renal Guidelines from the 2012 Consensus Conference: Current Data and Future Study.

Kingswood JC, Bissler JJ, Budde K, et al.

Nephron 2016; (134(2)):51-58 doi:10.1159/000448293.

[Sporadic Lymphangioleiomyomatosis (sLAM) and Tuberous Sclerosis Complex (TSC) - Pulmonary Manifestations].

Brakemeier S, Grohé C, Bachmann F, Budde K

Pneumologie (Stuttgart, Germany) 2017; (71(2)):86-95 doi:10.1055/s-0042-111522.

Treatment of renal angiomyolipoma in tuberous sclerosis complex (TSC) patients.

Brakemeier S, Bachmann F, Budde K

Pediatric nephrology (Berlin, Germany) 2017; (32(7)):1137-1144 doi:10.1007/s00467-016-3474-6.

Adjunctive everolimus therapy for treatment-resistant focal-onset seizures associated with tuberous sclerosis (EXIST-3): a phase 3, randomised, double-blind, placebo-controlled study.

French JA, Lawson JA, Yapici Z, et al.

Lancet (London, England) 2016; (388(10056)):2153-2163 doi:10.1016/S0140-6736(16)31419-2.

Efficacy and Safety of Topical Sirolimus Therapy for Facial Angiofibromas in the Tuberous Sclerosis Complex : A Randomized Clinical Trial.

Wataya-Kaneda M, Nakamura A, Tanaka M, et al.

JAMA dermatology 2017; (153(1)):39-48 doi:10.1001/jamadermatol.2016.3545.

Mosaic Disorders of the PI3K/PTEN/AKT/TSC/mTORC1 Signaling Pathway.

Nathan N, Keppler-Noreuil KM, Biesecker LG, et al.

Dermatologic clinics 2017; (35(1)):51-60 doi:10.1016/j.det.2016.07.001.

Genetics of tuberous sclerosis complex: implications for clinical practice.

Caban C, Khan N, Hasbani DM, Crino PB

The application of clinical genetics 2017; (10()):1-8 doi:10.2147/TACG.S90262.

TuberOus SClerosis registry to increase disease Awareness (TOSCA) - baseline data on 2093 patients.

Kingswood JC, d'Augères GB, Belousova E, et al.

Orphanet journal of rare diseases 2017; (12(1)):2 doi:10.1186/s13023-016-0553-5.

Unique findings of subependymal giant cell astrocytoma within cortical tubers in patients with tuberous sclerosis complex: a histopathological evaluation.

Katz JS, Frankel H, Ma T, et al.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery 2017; (33(4)):601-607 doi:10.1007/s00381-017-3335-z.

Management of everolimus-associated adverse events in patients with tuberous sclerosis complex: a practical guide.

Davies M, Saxena A, Kingswood JC

Orphanet journal of rare diseases 2017; (12(1)):35 doi:10.1186/s13023-017-0581-9.

Treatment of Renal Angiomyolipoma and Other Hamartomas in Patients with Tuberous Sclerosis Complex.

Samuels JA

Clinical journal of the American Society of Nephrology : CJASN 2017; (12(7)):1196-1202 doi:10.2215/CJN.08150816.

Cutaneous manifestations of tuberous sclerosis complex and the paediatrician's role.

Cardis MA, DeKlotz CMC

Archives of disease in childhood 2017; (102(9)):858-863 doi:10.1136/archdischild-2016-312001.

Tuberous Sclerosis Complex: A Review.

Randle SC

Pediatric annals 2017; (46(4)):e166-e171 doi:10.3928/19382359-20170320-01.

Long-term treatment of cutaneous manifestations of tuberous sclerosis complex with topical 1% sirolimus cream: A prospective study of 25 patients.

Malissen N, Vergely L, Simon M, et al.

Journal of the American Academy of Dermatology 2017; (77(3)):464-472.e3 doi:10.1016/j.jaad.2017.04.005.

Acute Management of Symptomatic Subependymal Giant Cell Astrocytoma With Everolimus.

Arroyo MS, Krueger DA, Broomall E, et al.

Pediatric neurology 2017; (72()):81-85 doi:10.1016/j.pediatrneurol.2017.04.008.

Dermatological manifestations of tuberous sclerosis complex (TSC).

Ebrahimi-Fakhari D, Meyer S, Vogt T, et al.

Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG 2017; (15(7)):695-700 doi:10.1111/ddg.13264.

Ketogenic Diet for the Management of Epilepsy Associated with Tuberous Sclerosis Complex in Children.

Park S, Lee EJ, Eom S, et al.

Journal of epilepsy research 2017; (7(1)):45-49 doi:10.14581/jer.17008.

Recommendations for imaging-based diagnosis and management of renal angiomyolipoma associated with tuberous sclerosis complex.

Buj Pradilla MJ, Martí Ballesté T, Torra R, Villacampa Aubá F

Clinical kidney journal 2017; (10(6)):728-737 doi:10.1093/ckj/sfx094.

Renal manifestations of tuberous sclerosis complex: patients' and parents' knowledge and routines for renal follow-up - a questionnaire study.

Cockerell I, Guenin M, Heimdal K, et al.

BMC nephrology 2018; (19(1)):39 doi:10.1186/s12882-018-0835-3.

Renal angiomyolipoma in patients with tuberous sclerosis complex: findings from the TuberOus SClerosis registry to increase disease Awareness.

Kingswood JC, Belousova E, Benedik MP, et al.

Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 2019; (34(3)):502-508 doi:10.1093/ndt/gfy063.

Management of epilepsy associated with tuberous sclerosis complex: Updated clinical recommendations.

Curatolo P, Nabbout R, Lagae L, et al.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2018; (22(5)):738-748 doi:10.1016/j.ejpn.2018.05.006.

Incidental diagnosis of tuberous sclerosis complex by exome sequencing in three families with subclinical findings.

Caylor RC, Grote L, Thiffault I, et al.

Neurogenetics 2018; (19(3)):205-213 doi:10.1007/s10048-018-0551-y.

Renal progression factors in young patients with tuberous sclerosis complex: a retrospective cohort study.

Janssens P, Van Hoeve K, De Waele L, et al.

Pediatric nephrology (Berlin, Germany) 2018; (33(11)):2085-2093 doi:10.1007/s00467-018-4003-6.

Everolimus.

Hasskarl J

Recent results in cancer research. Fortschritte der Krebsforschung. Progres dans les recherches sur le cancer 2018; (211()):101-123 doi:10.1007/978-3-319-91442-8_8.

A clinical update on tuberous sclerosis complex-associated neuropsychiatric disorders (TAND).

de Vries PJ, Wilde L, de Vries MC, et al.

American journal of medical genetics. Part C, Seminars in medical genetics 2018; (178(3)):309-320 doi:10.1002/ajmg.c.31637.

TSC-associated neuropsychiatric disorders (TAND): findings from the TOSCA natural history study.

de Vries PJ, Belousova E, Benedik MP, et al.

Orphanet journal of rare diseases 2018; (13(1)):157 doi:10.1186/s13023-018-0901-8.

Tuberous sclerosis-associated neuropsychiatric disorders: a paediatric cohort study.

Toldo I, Brasson V, Miscioscia M, et al.

Developmental medicine and child neurology 2019; (61(2)):168-173 doi:10.1111/dmcn.14055.

Serum vascular endothelial growth factor-D as a diagnostic and therapeutic biomarker for lymphangioleiomyomatosis.

Hirose M, Matsumuro A, Arai T, et al.

PloS one 2019; (14(2)):e0212776 doi:10.1371/journal.pone.0212776.

Epilepsy in tuberous sclerosis complex: Findings from the TOSCA Study.

Nabbout R, Belousova E, Benedik MP, et al.

Epilepsia open 2019; (4(1)):73-84 doi:10.1002/epi4.12286.

A step-wise approach for establishing a multidisciplinary team for the management of tuberous sclerosis complex: a Delphi consensus report.

Auvin S, Bissler JJ, Cottin V, et al.

Orphanet journal of rare diseases 2019; (14(1)):91 doi:10.1186/s13023-019-1072-y.

Safety and efficacy of mTOR inhibitor treatment in patients with tuberous sclerosis complex under 2 years of age - a multicenter retrospective study.

Saffari A, Brösse I, Wiemer-Kruel A, et al.

Orphanet journal of rare diseases 2019; (14(1)):96 doi:10.1186/s13023-019-1077-6.

Experience of follow-up, quality of life, and transition from pediatric to adult healthcare of patients with tuberous sclerosis complex.

Bar C, Ghobeira R, Azzi R, et al.

Epilepsy & behavior : E&B 2019; (96()):23-27 doi:10.1016/j.yebeh.2019.04.027.

Tuberous Sclerosis Complex Associated Neuropsychiatric Disorders and Parental Stress: Findings from a National, Prospective TSC Surveillance Study.

Ebrahimi-Fakhari D, Hussong J, Flotats-Bastardas M, et al.

Neuropediatrics 2019; (50(5)):294-299 doi:10.1055/s-0039-1693042.

Clinical Characteristics of Subependymal Giant Cell Astrocytoma in Tuberous Sclerosis Complex.

Jansen AC, Belousova E, Benedik MP, et al.

Frontiers in neurology 2019; (10()):705 doi:10.3389/fneur.2019.00705.

A Review of Investigations for Patients With Tuberous Sclerosis Complex Who Were Referred to the Tuberous Sclerosis Clinic at The Hospital for Sick Children: Identifying Gaps in Surveillance.

Alsowat D, Zak M, McCoy B, et al.

Pediatric neurology 2020; (102()):44-48 doi:10.1016/j.pediatrneurol.2019.06.018.

Neuro-ophthalmological manifestations of tuberous sclerosis: current perspectives.

Wan MJ, Chan KL, Jastrzembski BG, Ali A

Eye and brain 2019; (11()):13-23 doi:10.2147/EB.S186306.

Subependymal Giant Cell Astrocytoma Size Measurement in Tuberous Sclerosis Complex: Noncontrast vs Contrast-Enhanced 3-Dimensional T1-Weighted Magnetic Resonance Imaging (MRI).

Hill BJ, Gadde JA, Palasis S

Journal of child neurology 2019; (34(14)):922-927 doi:10.1177/0883073819867541.

Newly Diagnosed and Growing Subependymal Giant Cell Astrocytoma in Adults With Tuberous Sclerosis Complex: Results From the International TOSCA Study.

Jansen AC, Belousova E, Benedik MP, et al.

Frontiers in neurology 2019; (10()):821 doi:10.3389/fneur.2019.00821.

Long-term cognitive outcomes in tuberous sclerosis complex.

Tye C, Mcewen FS, Liang H, et al.

Developmental medicine and child neurology 2020; (62(3)):322-329 doi:10.1111/dmcn.14356.

Tuberous Sclerosis Complex (TSC): Expert Recommendations for Provision of Coordinated Care.

Annear NMP, Appleton RE, Bassi Z, et al.

Frontiers in neurology 2019; (10()):1116 doi:10.3389/fneur.2019.01116.

The coding and non-coding transcriptional landscape of subependymal giant cell astrocytomas.

Bongaarts A, van Scheppingen J, Korotkov A, et al.

Brain : a journal of neurology 2020; (143(1)):131-149 doi:10.1093/brain/awz370.

Update on Drug Management of Refractory Epilepsy in Tuberous Sclerosis Complex.

van der Poest Clement E, Jansen FE, Braun KPJ, Peters JM

Paediatric drugs 2020; (22(1)):73-84 doi:10.1007/s40272-019-00376-0.

Cannabidiol Elevates Mechanistic Target of Rapamycin Inhibitor Levels in Patients With Tuberous Sclerosis Complex.

Ebrahimi-Fakhari D, Agricola KD, Tudor C, et al.

Pediatric neurology 2020; (105()):59-61 doi:10.1016/j.pediatrneurol.2019.11.017.

A systematic review on the burden of illness in individuals with tuberous sclerosis complex (TSC).

Zöllner JP, Franz DN, Hertzberg C, et al.

Orphanet journal of rare diseases 2020; (15(1)):23 doi:10.1186/s13023-019-1258-3.

Tuberous Sclerosis Complex Axis Controls Renal Extracellular Vesicle Production and Protein Content.

Zadjali F, Kumar P, Yao Y, et al.

International journal of molecular sciences 2020; (21(5)) doi:10.3390/ijms21051729.

Epilepsy and Neurodevelopmental Comorbidities in Tuberous Sclerosis Complex: A Natural History Study.

Gupta A, de Bruyn G, Tousseyn S, et al.

Pediatric neurology 2020; (106()):10-16 doi:10.1016/j.pediatrneurol.2019.12.016.

TSC2 pathogenic variants are predictive of severe clinical manifestations in TSC infants: results of the EPISTOP study.

Ogórek B, Hamieh L, Hulshof HM, et al.

Genetics in medicine : official journal of the American College of Medical Genetics 2020; (22(9)):1489-1497 doi:10.1038/s41436-020-0823-4.

Genetics of tuberous sclerosis complex: an update.

Marom D

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery 2020; (36(10)):2489-2496 doi:10.1007/s00381-020-04726-z.

The Neurodevelopmental Pathogenesis of Tuberous Sclerosis Complex (TSC).

Feliciano DM

Frontiers in neuroanatomy 2020; (14()):39 doi:10.3389/fnana.2020.00039.

The TAND checklist: a useful screening tool in children with tuberous sclerosis and neurofibromatosis type 1.

Cervi F, Saletti V, Turner K, et al.

Orphanet journal of rare diseases 2020; (15(1)):237 doi:10.1186/s13023-020-01488-4.

Mutation landscape of TSC1/TSC2 in Chinese patients with tuberous sclerosis complex.

Meng Y, Yu C, Chen M, et al.

Journal of human genetics 2021; (66(3)):227-236 doi:10.1038/s10038-020-00839-0.

Renal Manifestations of Tuberous Sclerosis Complex: Key Findings From the Final Analysis of the TOSCA Study Focussing Mainly on Renal Angiomyolipomas.

Kingswood JC, Belousova E, Benedik MP, et al.

Frontiers in neurology 2020; (11()):972 doi:10.3389/fneur.2020.00972.

Vigabatrin-related adverse events for the treatment of epileptic spasms: systematic review and meta-analysis.

Biswas A, Yossofzai O, Vincent A, et al.

Expert review of neurotherapeutics 2020; (20(12)):1315-1324 doi:10.1080/14737175.2020.1840356.

Prevention of Epilepsy in Infants with Tuberous Sclerosis Complex in the EPISTOP Trial.

Kotulska K, Kwiatkowski DJ, Curatolo P, et al.

Annals of neurology 2021; (89(2)):304-314 doi:10.1002/ana.25956.

Lymphangioleiomyomatosis: a clinical review.

O'Mahony AM, Lynn E, Murphy DJ, et al.

Breathe (Sheffield, England) 2020; (16(2)):200007 doi:10.1183/20734735.0007-2020.

Genetic pathogenesis of the epileptogenic lesions in Tuberous Sclerosis Complex: Therapeutic targeting of the mTOR pathway.

Moavero R, Mühlebner A, Luinenburg MJ, et al.

Epilepsy & behavior : E&B 2022; (131(Pt B)):107713 doi:10.1016/j.yebeh.2020.107713.

Factors associated with autism spectrum disorder in children with tuberous sclerosis complex: a systematic review and meta-analysis.

Mitchell RA, Barton SM, Harvey AS, et al.

Developmental medicine and child neurology 2021; (63(7)):791-801 doi:10.1111/dmcn.14787.

Structural insights into TSC complex assembly and GAP activity on Rheb.

Yang H, Yu Z, Chen X, et al.

Nature communications 2021; (12(1)):339 doi:10.1038/s41467-020-20522-4.

Tuberous Sclerosis Complex.

Islam MP

Seminars in pediatric neurology 2021; (37()):100875 doi:10.1016/j.spen.2021.100875.

Involvement of mental health professionals in the treatment of tuberous sclerosis complex-associated neuropsychiatric disorders (TAND): results of a multinational European electronic survey.

Waltereit R, Beaure d'Augères G, Jancic J, et al.

Orphanet journal of rare diseases 2021; (16(1)):216 doi:10.1186/s13023-021-01800-w.

Cardiac Rhabdomyoma in Adult.

Ghosh S, Milunski MR

Cureus 2021; (13(4)):e14565 doi:10.7759/cureus.14565.

Tuberous sclerosis complex for the pulmonologist.

Rebaine Y, Nasser M, Girerd B, et al.

European respiratory review : an official journal of the European Respiratory Society 2021; (30(161)) doi:10.1183/16000617.0348-2020.

Review of the treatment options for epilepsy in tuberous sclerosis complex: towards precision medicine.

Schubert-Bast S, Strzelczyk A

Therapeutic advances in neurological disorders 2021; (14()):17562864211031100 doi:10.1177/17562864211031100.

Updated International Tuberous Sclerosis Complex Diagnostic Criteria and Surveillance and Management Recommendations.

Northrup H, Aronow ME, Bebin EM, et al.

Pediatric neurology 2021; (123()):50-66 doi:10.1016/j.pediatrneurol.2021.07.011.

Beyond the Guidelines: How We Can Improve Healthcare for People With Tuberous Sclerosis Complex Around the World.

Stuart C, Fladrowski C, Flinn J, et al.

Pediatric neurology 2021; (123()):77-84 doi:10.1016/j.pediatrneurol.2021.07.010.

The importance of imaging in tuberous sclerosis complex (tsc) in children: Two cases.

Dedushi K, Hyseni F, Musa J, et al.

Radiology case reports 2022; (17(2)):399-403 doi:10.1016/j.radcr.2021.11.007.

Association of Early MRI Characteristics With Subsequent Epilepsy and Neurodevelopmental Outcomes in Children With Tuberous Sclerosis Complex.

Hulshof HM, Kuijf HJ, Kotulska K, et al.

Neurology 2022; (98(12)):e1216-e1225 doi:10.1212/WNL.0000000000200027.

Empowering Families Through Technology: A Mobile-Health Project to Reduce the TAND Identification and Treatment Gap (TANDem).

Heunis TM, Bissell S, Byars AW, et al.

Frontiers in psychiatry 2022; (13()):834628 doi:10.3389/fpsyt.2022.834628.

Focal Epilepsy in Children With Tuberous Sclerosis Complex: Does Vigabatrin Control Focal Seizures?

Lin S, Liao J, Zhao X, et al.

Journal of child neurology 2022; (37(5)):329-333 doi:10.1177/08830738211048326.

The role of neurosurgery in the management of tuberous sclerosis complex-associated epilepsy: a systematic review.

Nie JZ, Karras CL, Trybula SJ, et al.

Neurosurgical focus 2022; (52(5)):E6 doi:10.3171/2022.2.FOCUS21789.

Genotype/phenotype correlation in 123 Chinese patients with Tuberous Sclerosis Complex.

Ng SY, Luk HM, Hau EW, et al.

European journal of medical genetics 2022; (65(10)):104573 doi:10.1016/j.ejmg.2022.104573.

Advances in the genetics and neuropathology of tuberous sclerosis complex: edging closer to targeted therapy.

Curatolo P, Specchio N, Aronica E

The Lancet. Neurology 2022; (21(9)):843-856 doi:10.1016/S1474-4422(22)00213-7.

The state of pediatric tuberous sclerosis complex epilepsy care: Results from a national survey.

Whitney R, Zak M, Haile D, Nabavi Nouri M

Epilepsia open 2022; (7(4)):718-728 doi:10.1002/epi4.12652.

Overview of therapeutic options for epilepsy.

Kuchenbuch M, Chiron C, Milh M

Archives de pediatrie : organe officiel de la Societe francaise de pediatrie 2022; (29(5S)):5S14-5S19 doi:10.1016/S0929-693X(22)00285-8.

Pathogenic RHEB Somatic Variant in a Child With Tuberous Sclerosis Complex Without Pathogenic Variants in TSC1 or TSC2.

Lee WS, Macdonald-Laurs E, Stephenson S, et al.

Neurology 2023; (101(2)):78-82 doi:10.1212/WNL.0000000000207177.

Comprehensive genetic and phenotype analysis of 95 individuals with mosaic tuberous sclerosis complex.

Klonowska K, Giannikou K, Grevelink JM, et al.

American journal of human genetics 2023; (110(6)):979-988 doi:10.1016/j.ajhg.2023.04.002.

Efficacy and safety of vigabatrin in patients with tuberous sclerosis complex and infantile epileptic spasm syndrome: a systematic review.

Prezioso G, Chiarelli F, Matricardi S

Expert review of neurotherapeutics 2023; (23(7)):661-671 doi:10.1080/14737175.2023.2216385.

Cardiac rhabdomyomas: clinical progression, efficacy and safety of everolimus treatment.

Yıldırım S, Aypar E, Aydın B, et al.

The Turkish journal of pediatrics 2023; (65(3)):479-488.

Development and Feasibility of the Self-Report Quantified Tuberous Sclerosis Complex-Associated Neuropsychiatric Disorders Checklist (TAND-SQ).

Heunis TM, Chambers N, Vanclooster S, et al.

Pediatric neurology 2023; (147()):101-123 doi:10.1016/j.pediatrneurol.2023.07.001.

Early Treatment with Vigabatrin Does Not Decrease Focal Seizures or Improve Cognition in Tuberous Sclerosis Complex: The PREVeNT Trial.

Bebin EM, Peters JM, Porter BE, et al.

Annals of neurology 2023; doi:10.1002/ana.26778.

International consensus recommendations for the identification and treatment of tuberous sclerosis complex-associated neuropsychiatric disorders (TAND).

de Vries PJ, Heunis TM, Vanclooster S, et al.

Journal of neurodevelopmental disorders 2023; (15(1)):32 doi:10.1186/s11689-023-09500-1.

A Case of Vigabatrin Toxicity Mimicking Bilateral Thalamic Infarcts on MRI.

Lockard TJ, Rathore G

Cureus 2023; (15(9)):e45049 doi:10.7759/cureus.45049.

Identification of a complex intrachromosomal inverted insertion in the long arm of chromosome 9 as a cause of tuberous sclerosis complex in a Korean family.

Ryu SW, Yoon JH, Kim DW, et al.

Molecular genetics & genomic medicine 2024; (12(3)):e2330 doi:10.1002/mgg3.2330.

Clinical practice recommendations for kidney involvement in tuberous sclerosis complex: a consensus statement by the ERKNet Working Group for Autosomal Dominant Structural Kidney Disorders and the ERA Genes & Kidney Working Group.

Mekahli D, Müller RU, Marlais M, et al.

Nature reviews. Nephrology 2024; (20(6)):402-420 doi:10.1038/s41581-024-00818-0.

Cardiac Rhabdomyomas Presenting with Critical Cardiac Obstruction in Neonates and Infants: Treatment Strategies and Outcome, A Single-Center Experience.

Ng LY, McGuinness J, Prendiville T, et al.

Pediatric cardiology 2024; (45(5)):1132-1141 doi:10.1007/s00246-024-03420-0.

Lymphangioleiomyomatosis in patients with tuberous sclerosis: a national centre audit.

Johnson J, Somerfield W, Johnson SR

Orphanet journal of rare diseases 2024; (19(1)):137 doi:10.1186/s13023-024-03115-y.

A 24-year-Old woman with recurrent pneumothoraces.

Greenberg DJ, Sah A, Chopra A, Madisi N

Respiratory medicine case reports 2024; (49()):102015 doi:10.1016/j.rmcr.2024.102015.

Measurement of Developmental and Behavioral Concerns in Toddlers With Tuberous Sclerosis Complex.

McDonald NM, Jacobs S, Hyde C, et al.

Pediatric neurology 2024; (155()):62-67 doi:10.1016/j.pediatrneurol.2024.03.014.

Pharmacokinetic variability of everolimus and impact of concomitant antiseizure medications in patients with tuberous sclerosis complex: A retrospective study of therapeutic drug monitoring data in Denmark and Norway.

Kirkeby K, Cockerell I, Christensen J, et al.

Medicine 2024; (103(32)):e39244 doi:10.1097/MD.0000000000039244.

Drug-Resistant Epilepsy in Tuberous Sclerosis Complex Is Associated With TSC2 Genotype: More Findings From the Preventing Epilepsy Using Vigatrin (PREVeNT) Trial.

Farach LS, Richard MA, Wulsin AC, et al.

Pediatric neurology 2024; (159()):62-71 doi:10.1016/j.pediatrneurol.2024.06.012.

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