Research & Literature

Neurological and neuropsychiatric aspects of tuberous sclerosis complex.

Curatolo P, Moavero R, de Vries PJ

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

Insight into response to mTOR inhibition when PKD1 and TSC2 are mutated.

Cabrera-López C, Bullich G, Martí T, et al.

BMC medical genetics 2015; (16()):39 doi:10.1186/s12881-015-0185-y.

Clinical Pattern of Tolvaptan-Associated Liver Injury in Subjects with Autosomal Dominant Polycystic Kidney Disease: Analysis of Clinical Trials Database.

Watkins PB, Lewis JH, Kaplowitz N, et al.

Drug safety 2015; (38(11)):1103-13 doi:10.1007/s40264-015-0327-3.

Renal involvement in tuberous sclerosis complex with emphasis on cystic lesions.

Robert A, Leroy V, Riquet A, et al.

La Radiologia medica 2016; (121(5)):402-8 doi:10.1007/s11547-015-0572-7.

Natural History and Current Treatment Options for Subependymal Giant Cell Astrocytoma in Tuberous Sclerosis Complex.

Jóźwiak S, Mandera M, Młynarski W

Seminars in pediatric neurology 2015; (22(4)):274-81.

Effect of Tolvaptan in Autosomal Dominant Polycystic Kidney Disease by CKD Stage: Results from the TEMPO 3:4 Trial.

Torres VE, Higashihara E, Devuyst O, et al.

Clinical journal of the American Society of Nephrology : CJASN 2016; (11(5)):803-811 doi:10.2215/CJN.06300615.

mTORC1-mediated inhibition of polycystin-1 expression drives renal cyst formation in tuberous sclerosis complex.

Pema M, Drusian L, Chiaravalli M, et al.

Nature communications 2016; (7()):10786 doi:10.1038/ncomms10786.

Renal angiomyolipoma bleeding in a patient with TSC2/PKD1 contiguous gene syndrome after 17 years of renal replacement therapy.

Furlano M, Barreiro Y, Martí T, et al.

Nefrologia : publicacion oficial de la Sociedad Espanola Nefrologia 2017; (37(1)):87-92 doi:10.1016/j.nefro.2016.04.007.

Epileptic spasms - 175 years on: Trying to teach an old dog new tricks.

Wilmshurst JM, Ibekwe RC, O'Callaghan FJK

Seizure 2017; (44()):81-86 doi:10.1016/j.seizure.2016.11.021.

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.

[Hemorrhagic Onset of Subependymal Giant Cell Astrocytoma Associated with Tuberous Sclerosis:A Case Report and Review of Literature].

Adachi M, Nakamura M, Shinozaki N, Miyazaki T

No shinkei geka. Neurological surgery 2017; (45(5)):397-404 doi:10.11477/mf.1436203521.

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.

Beyond polycystic kidney disease.

Santos SF, Francisco T, Cordeiro AI, Lopes MJP

BMJ case reports 2017; (2017()) doi:10.1136/bcr-2017-220766.

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.

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.

Renal disease in tuberous sclerosis complex: pathogenesis and therapy.

Lam HC, Siroky BJ, Henske EP

Nature reviews. Nephrology 2018; (14(11)):704-716 doi:10.1038/s41581-018-0059-6.

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.

Establishment of a Regional Interdisciplinary Medical System for Managing Patients with Tuberous Sclerosis Complex (TSC).

Fujimoto A, Okanishi T, Imai S, et al.

Scientific reports 2018; (8(1)):16747 doi:10.1038/s41598-018-35168-y.

Imaging of Kidney Cysts and Cystic Kidney Diseases in Children: An International Working Group Consensus Statement.

Gimpel C, Avni EF, Breysem L, et al.

Radiology 2019; (290(3)):769-782 doi:10.1148/radiol.2018181243.

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.

TSC2/PKD1 contiguous gene syndrome, with emphasis on a case with an atypical mild polycystic kidney phenotype and a novel genetic variant.

Reyna-Fabián ME, Alcántara-Ortigoza MA, Hernández-Martínez NL, et al.

Nefrologia 2020; (40(1)):91-98 doi:10.1016/j.nefro.2019.03.003.

Everolimus as adjunctive therapy for tuberous sclerosis complex-associated partial-onset seizures.

Lechuga L, Franz DN

Expert review of neurotherapeutics 2019; (19(10)):913-925 doi:10.1080/14737175.2019.1635457.

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.

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.

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.

The effect of mTOR inhibition on obstructive hydrocephalus in patients with tuberous sclerosis complex (TSC) related subependymal giant cell astrocytoma (SEGA).

Weidman DR, Palasamudram S, Zak M, et al.

Journal of neuro-oncology 2020; (147(3)):731-736 doi:10.1007/s11060-020-03487-8.

Pharmacological treatment strategies for subependymal giant cell astrocytoma (SEGA).

Ebrahimi-Fakhari D, Franz DN

Expert opinion on pharmacotherapy 2020; (21(11)):1329-1336 doi:10.1080/14656566.2020.1751124.

Structure of the TSC2 GAP Domain: Mechanistic Insight into Catalysis and Pathogenic Mutations.

Hansmann P, Brückner A, Kiontke S, et al.

Structure (London, England : 1993) 2020; (28(8)):933-942.e4 doi:10.1016/j.str.2020.05.008.

Molecular diagnosis of an infant with TSC2/PKD1 contiguous gene syndrome.

Osumi K, Suga K, Ono A, et al.

Human genome variation 2020; (7()):21 doi:10.1038/s41439-020-0108-0.

Tuberous Sclerosis Complex-Associated Neuropsychiatric Disorders (TAND): New Findings on Age, Sex, and Genotype in Relation to Intellectual Phenotype.

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

Frontiers in neurology 2020; (11()):603 doi:10.3389/fneur.2020.00603.

A case of TSC2-PKD1 contiguous deletion syndrome: Clinical features and effective treatment for epilepsy.

Pan X, Yang C, Ma S, et al.

International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience 2021; (81(2)):191-199 doi:10.1002/jdn.10088.

Association of Child Neurology (AOCN) - Indian Epilepsy Society (IES) Consensus Guidelines for the Diagnosis and Management of West Syndrome.

Sharma S, Kaushik JS, Srivastava K, et al.

Indian pediatrics 2021; (58(1)):54-66.

Early epileptiform EEG activity in infants with tuberous sclerosis complex predicts epilepsy and neurodevelopmental outcomes.

De Ridder J, Verhelle B, Vervisch J, et al.

Epilepsia 2021; (62(5)):1208-1219 doi:10.1111/epi.16892.

Endovascular treatment of intrarenal aneurysms bleeding and angiomyolipomas in a patient with tuberous sclerosis and polycystic kidney disease.

Leite T, Pazinato LV, Vidal MJA, et al.

Jornal brasileiro de nefrologia 2023; (45(1)):111-115 doi:10.1590/2175-8239-JBN-2021-0023.

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.

Medical, welfare, and educational challenges and psychological distress in parents caring for an individual with 22q11.2 deletion syndrome: A cross-sectional survey in Japan.

Morishima R, Kumakura Y, Usami S, et al.

American journal of medical genetics. Part A 2022; (188(1)):37-45 doi:10.1002/ajmg.a.62485.

Urgent Transcatheter Arterial Embolization for Wunderlich Syndrome With Hypovolemic Shock Secondary to Ruptured Renal Angiomyolipoma.

Gong M, Liu Z, Su H, et al.

Frontiers in surgery 2021; (8()):704478 doi:10.3389/fsurg.2021.704478.

Renal Neoplasia in Polycystic Kidney Disease: An Assessment of Tuberous Sclerosis Complex-associated Renal Neoplasia and PKD1/TSC2 Contiguous Gene Deletion Syndrome.

Gupta S, Lohse CM, Rowsey R, et al.

European urology 2022; (81(3)):229-233 doi:10.1016/j.eururo.2021.11.013.

Blood pressure and glomerular filtration rate in youth with tuberous sclerosis complex.

Vargiami E, Stabouli S, Sidira C, et al.

European journal of pediatrics 2022; (181(4)):1465-1472 doi:10.1007/s00431-021-04333-3.

Diagnosis and genotype-phenotype correlation in patients with PKD1/TSC2 contiguous gene deletion syndrome.

Shang S, Mei Y, Wang T, et al.

Clinical nephrology 2022; (97(6)):328-338 doi:10.5414/CN110476.

[Subependymal Giant Cell Astrocytoma with Tuberous Sclerosis Complex(TSC-SEGA)].

Ichikawa T, Niida Y

No shinkei geka. Neurological surgery 2022; (50(1)):111-121 doi:10.11477/mf.1436204536.

Simultaneous nephrectomy during kidney transplantation for polycystic kidney disease does not detrimentally impact comorbidity and graft survival.

Darius T, Bertoni S, De Meyer M, et al.

World journal of transplantation 2022; (12(5)):100-111 doi:10.5500/wjt.v12.i5.100.

The Need for Routine Native Nephrectomy in the Workup for Kidney Transplantation in Autosomal Dominant Polycystic Kidney Disease Patients.

Casteleijn NF, Geertsema P, Koorevaar IW, et al.

Urologia internationalis 2023; (107(2)):148-156 doi:10.1159/000525575.

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.

Cystic kidney disease in tuberous sclerosis complex: current knowledge and unresolved questions.

Gallo-Bernal S, Kilcoyne A, Gee MS, Paul E

Pediatric nephrology (Berlin, Germany) 2023; (38(10)):3253-3264 doi:10.1007/s00467-022-05820-x.

Tolvaptan for Children and Adolescents with Autosomal Dominant Polycystic Kidney Disease: Randomized Controlled Trial.

Mekahli D, Guay-Woodford LM, Cadnapaphornchai MA, et al.

Clinical journal of the American Society of Nephrology : CJASN 2023; (18(1)):36-46 doi:10.2215/CJN.0000000000000022.

TSC2/PKD1 contiguous deletion syndrome in a pregnant woman: A case report.

Huang S, Xu K, Xu Y, et al.

Frontiers in medicine 2023; (10()):1101079 doi:10.3389/fmed.2023.1101079.

Management Outcomes of Large Renal Angiomyolipoma Presenting with Wunderlich Syndrome-Experience from a Tertiary Center.

Pal AK, Kalra S, Sreenivasan SK, et al.

Journal of kidney cancer and VHL 2023; (10(2)):21-28 doi:10.15586/jkcvhl.v10i2.265.

Updated clinical recommendations for the management of tuberous sclerosis complex associated epilepsy.

Specchio N, Nabbout R, Aronica E, et al.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2023; (47()):25-34 doi:10.1016/j.ejpn.2023.08.005.

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.

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.

Patients' and physicians' awareness of clinical symptoms and disease severity in tuberous sclerosis complex.

Sauter M, Weber L, Jung D, et al.

Orphanet journal of rare diseases 2024; (19(1)):106 doi:10.1186/s13023-024-03118-9.

Atypical noncontiguous TSC2/PKD1 gene deletions presenting as tuberous sclerosis/polycystic kidney disease contiguous gene syndrome.

Ventayol-Guirado M, Torres L, Asensio-Landa V, et al.

American journal of medical genetics. Part A 2024; (194(12)):e63830 doi:10.1002/ajmg.a.63830.

Widespread service fragmentation for patients and families with tuberous sclerosis complex (TSC) in the Republic of Ireland.

Vasseghi M, Behan C, Connolly A, et al.

Journal of rare diseases (Berlin, Germany) 2024; (3(1)):24 doi:10.1007/s44162-024-00049-8.

Progressive Polycystic Kidney Disease in an Infant Girl With TSC2/PKD1 Contiguous Gene Syndrome.

Hashimoto K, Hayashida T, Otsubo Y, et al.

Cureus 2024; (16(8)):e67800 doi:10.7759/cureus.67800.

Tuberous sclerosis complex: Diagnostic features, surveillance, and therapeutic strategies.

Arredondo KH, Jülich K, Roach ES

Seminars in pediatric neurology 2024; (51()):101155 doi:10.1016/j.spen.2024.101155.

Tuberous sclerosis: a survey in the canton of Vaud, Switzerland.

Hagon-Nicod O, Fellmann F, Novy J, et al.

Frontiers in medicine 2024; (11()):1513619 doi:10.3389/fmed.2024.1513619.

Tuberous sclerosis complex-associated kidney disease in children.

Marlais M, Mekahli D

Pediatric nephrology (Berlin, Germany) 2025; (40(6)):1871-1877 doi:10.1007/s00467-024-06642-9.

The prospect of novel orphan therapeutic protocol for TSC2/PKD1 contiguous gene syndrome: a case report.

Agavriloaei BD, Costache RC, Babici RG, et al.

BMC nephrology 2025; (26(1)):166 doi:10.1186/s12882-025-04088-1.

TSC2/PKD1 Contiguous Gene Deletion Syndrome: A Case Series.

Valle EO, Guerreiro MC, Reusing Junior JO, et al.

American journal of kidney diseases : the official journal of the National Kidney Foundation 2025; (86(3)):353-359.e1 doi:10.1053/j.ajkd.2025.05.004.

Successful resection of large subependymal giant cell astrocytoma using presurgical mammalian target of rapamycin inhibitor.

Kawabe M, Ichikawa H, Nagai K, et al.

Surgical neurology international 2025; (16()):332 doi:10.25259/SNI_159_2025.

Case Report: A case of ruptured renal epithelioid angiomyolipoma leading to the diagnosis of TSC2/PKD1 contiguous gene syndrome.

Akiba T, Shimada S, Ikegami M, et al.

Frontiers in pediatrics 2026; (14()):1756327 doi:10.3389/fped.2026.1756327.

Wünderlich Syndrome Without Classic Signs: A Case of Spontaneous Retroperitoneal Hemorrhage From a Ruptured Renal Angiomyolipoma.

Andino-Colón C, Nuñez A, Poventud Y, Mercado J

Cureus 2026; (18(3)):e106094 doi:10.7759/cureus.106094.

Electrographic-only seizures and status epilepticus in neonates with Tuberous Sclerosis Complex.

Pellegrin S, Mastrangelo M, Accorsi P, et al.

Pediatric research 2026; doi:10.1038/s41390-026-05074-5.

Psychosocial Well-Being and Caregiving Challenges Among Parents of Children With 1p36 Deletion Syndrome.

Watanabe M, Kibe C, Sugawara M, et al.

Journal of intellectual disability research : JIDR 2026; (70(11)):1151-1159 doi:10.1111/jir.70147.

Imaging features of TSC2/PKD1 contiguous gene deletion syndrome in adults.

Bitton J, Boudhabhay I, Dariane C, et al.

Abdominal radiology (New York) 2026; doi:10.1007/s00261-026-05768-8.

"We'd have been so happy just to get a diagnosis of epilepsy": A reflexive thematic analysis of lived experiences of Tuberous Sclerosis Complex in Ireland.

Vasseghi M, Behan C, Darker C, et al.

Epilepsy & behavior : E&B 2026; (185()):111263 doi:10.1016/j.yebeh.2026.111263.

From Guidelines to Practice: Pilot Implementation and Analytical Boundaries of a Focused ADPKD-Spectrum Gene Panel.

Babici RG, Ivanov IC, Agavriloaei BD, et al.

Diagnostics (Basel, Switzerland) 2026; (16(17)) doi:10.3390/diagnostics16172770.