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Books on the topic 'Tuberous sclerosis'

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Published: 4 June 2021
Last updated: 25 January 2023

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1

Living with tuberous sclerosis: Stories of love and hope. Landover, Md: National Tuberous Sclerosis Association, 1999.

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2

Paolo, Curatolo, and International Child Neurology Association, eds. Tuberous sclerosis complex: From basic science to clinical phenotypes. London: Mac Keith Press for the International Child Neurology Association, 2003.

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Mommy ... move the sun: Beyond dire prognosis, joy shines through! : a memoir. Pacific Grove, Calif: Angel Girl Publishing, 2014.

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4

Commerce, United States Congress House Committee on Energy and. Expressing the sense of the Congress regarding tuberous sclerosis: Report (to accompany H. Con. Res. 25) (including cost estimate of the Congressional Budget Office). [Washington, D.C: U.S. G.P.O., 2001.

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5

United States. Congress. House. Committee on Energy and Commerce. Expressing the sense of the Congress regarding tuberous sclerosis: Report (to accompany H. Con. Res. 25) (including cost estimate of the Congressional Budget Office). [Washington, D.C: U.S. G.P.O., 2001.

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6

Expressing the sense of the Congress regarding tuberous sclerosis: Report (to accompany H. Con. Res. 25) (including cost estimate of the Congressional Budget Office). [Washington, D.C: U.S. G.P.O., 2001.

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7

Osborne, John P. Tuberous sclerosis: ...more than just skin deep. 2nd ed. Bromsgrove: Tuberous Sclerosis Association of Great Britain, 1994.

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8

Kwiatkowski, David J., Vicky Holets Whittemore, and Elizabeth A. Thiele. Tuberous sclerosis complex: Genes, clinical features and therapeutics. Weinheim: Wiley-VCH, 2010.

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9

Yasumasa, Ishibashi, Hori Yoshiaki, and Japan Intractable Diseases Research Foundation., eds. Tuberous sclerosis and neurofibromatosis: Epidemiology, pathophysiology, biology, and management : proceedings of the International Symposium on Neurocutaneous Syndrome, 17-19 October 1989, Tokyo, Japan. Amsterdam: Excerpta Medica, 1990.

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10

Parker, James N., and Philip M. Parker. Tuberous sclerosis: A bibliography and dictionary for physicians, patients, and genome researchers [to internet references]. San Diego, CA: ICON Health Publications, 2007.

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11

1928-, Gomez Manuel R., ed. Tuberous sclerosis. 2nd ed. New York: Raven Press, 1988.

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12

National Institute of Neurological Disorders and Stroke (U.S.). Office of Communications and Public Liaison, ed. Tuberous sclerosis. Bethesda, Md: U.S. Dept. of Health and Human Services, Public Health Service, National Institutes of Health, 2001.

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13

1928-, Gomez Manuel R., Sampson Julian R, and Whittemore Vicky Holets, eds. Tuberous sclerosis complex. 3rd ed. New York: Oxford University Press, 1999.

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14

Gipson, Tanjala T., Andrea Poretti, Rebecca McClellan, and Michael V. Johnston. Tuberous Sclerosis Complex. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780199937837.003.0050.

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Tuberous sclerosis complex (TSC) is a disease, commonly classified as a neurocutaneous disorder, which may result in benign tumors throughout the brain and body, skin lesions, epilepsy, and cognitive/behavioral difficulties. Scientific discovery in TSC has resulted in the availability of treatments designed to target the neurobiological core of TSC in children. However, research is needed to determine if these treatments are effective for multiple aspects of the TSC phenotype in children. Current pediatric research studies have focused on the effects of early treatment of epilepsy as well as identification of potential biomarkers. This chapter reviews the aspects of TSC unique to pediatric patients, the status of current research, and future directions.
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15

Kwiatkowski, David J., Vicky Holets Whittemore, and Elizabeth A. Thiele, eds. Tuberous Sclerosis Complex. Wiley, 2010. http://dx.doi.org/10.1002/9783527630073.

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16

Ehninger, Dan, and Alcino J. Silva. Tuberous Sclerosis and Autism. Oxford University Press, 2013. http://dx.doi.org/10.1093/med/9780199744312.003.0009.

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Tuberous sclerosis (TSC) is a single-gene disorder caused by heterozygous mutations in either the TSC1 or TSC2 genes (Consortium, 1993; van Slegtenhorst et al., 1997). In 70% of cases, TSC gene mutations arise de novo. The remaining 30% of cases are familial with an autosomal dominant pattern of inheritance. Tuberous sclerosis belongs to the group of phakomatoses (neurocutaneous disorders) and is associated with characteristic manifestations in various organ systems, including the brain, skin, kidney, lung, heart, and liver (Crino, Nathanson, & Henske, 2006; Curatolo, Bombardieri & Jozwiak, 2008). Pathological manifestations in these organ systems often include tumor growths or tissue malformations (hamartomas). While penetrance is high, expressivity of TSC phenotypes is highly variable. The birth incidence of TSC is approximately 1:6,000 (Osborne, Fryer, & Webb, 1991). This chapter is an updated and extended version of a previous article on this topic (Ehninger, de Vries, & Silva, 2009)
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17

1942-, Johnson William G., Gomez Manuel R. 1928-, New York Academy of Sciences., and National Tuberous Sclerosis Association, eds. Tuberous sclerosis and allied disorders: Clinical, cellular, and molecular studies. New York, N.Y: New York Academy of Sciences, 1991.

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18

Dixon, Bradley P., J. Christopher Kingswood, and John J. Bissler. Tuberous sclerosis complex renal disease. Edited by Neil Turner. Oxford University Press, 2015. http://dx.doi.org/10.1093/med/9780199592548.003.0330.

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Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder affecting almost all organs. It has wider phenotypic variation than often appreciated, with less than half showing the combination of characteristic facial angiofibromas, epilepsy, and mental retardation. Renal angiomyolipomata or cysts are found in 90% and renal failure was historically a common mode of adult death from the disease. Pulmonary lymphangioleiomyomatosis is restricted to females. Angiomyolipomata or cystic disease, or both, may cause renal failure. Angiomyolipomata may also haemorrhage, especially from larger lesions. Manifestations of brain involvement substantially complicate management of many patients with TSC. The causative genes TSC1 and TSC2 encode tuberin and hamartin which are involved in control of the mammalian target of rapamycin pathway. Inhibitors of that pathway, such as sirolimus and everolimus, are therefore logical approaches to therapy and have been shown to be effective in reducing angiomyolipomata volume. It remains to be seen whether they can protect renal function.
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19

Jozwiak, Sergiusz, and Paolo Curatolo, eds. Tuberous Sclerosis Complex - Diagnosis and Management. Frontiers Media SA, 2021. http://dx.doi.org/10.3389/978-2-88971-733-0.

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20

Weiner, Howard, and Peter B. Crino. Familial tumour syndromes: tuberous sclerosis complex. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780199651870.003.0017.

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Tuberous sclerosis complex (TSC) is a multisystem, genetic disorder that results from mutations in TSC1 or TSC2 genes. Neurological and neuropsychiatric disabilities include epilepsy, intellectual disability, autism, attention deficit disorder, and generalized anxiety. Cortical dysplasias (also known as tubers) are developmental abnormalities of the cerebral cortex that are believed to be responsible for seizures, cognitive disability, and autism. Subependymal giant cell astrocytomas (SEGAs) are intraventricular tumours that can cause hydrocephalus, increased intracranial pressure, and death. TSC results from hyperactivation of the mammalian target of rapamycin (mTOR) pathway in neurons in the brain. This chapter reviews the clinical presentations of TSC as well as diagnostic approaches for epilepsy and SEGAs. It discusses the genetics and cellular pathogenesis of TSC as well as reviewing the link to mTOR signalling. This chapter also presents evidence for different treatment modalities for seizures and SEGAs. It is written for qualified specialist physicians and caregivers.
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21

The Tuberous Sclerosis Complex [Working Title]. IntechOpen, 2021. http://dx.doi.org/10.5772/intechopen.92113.

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22

Gomez, Manuel Rodriguez, and Vicky Holets Whittemore. Tuberous Sclerosis Complex. Developmental Perspectives in Psychiatry. Oxford University Press, 1999.

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23

James N., M.D. Parker (Editor) and Philip M. Parker (Editor), eds. The Official Patient's Sourcebook on Tuberous Sclerosis. Icon Health Publications, 2002.

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24

Kwiatkowski, David J., Vicky Holets Whittemore, and Elizabeth A. Thiele. Tuberous Sclerosis Complex: Genes, Clinical Features and Therapeutics. Wiley & Sons, Incorporated, John, 2011.

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25

Apicelli, Anthony J., and David H. Gutmann. Glial Tumors in Neurofibromatosis and Tuberous Sclerosis Complex. Oxford University Press, 2013. http://dx.doi.org/10.1093/med/9780199794591.003.0060.

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This is a digitally enhanced text. Readers can also see the coverage of this topic area in the second edition of Neuroglia. The second edition of Neuroglia was first published digitally in Oxford Scholarship Online and the bibliographic details provided, if cited, will direct people to that version of the text. Readers can also see the coverage of this topic area in the ...
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26

Webb, David W. M. Tuberous sclerosis of epidemiology, morbidity, genetics and pathogenesis. 1993.

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27

Kwiatkowski, David J., Vicky Holets Whittemore, and Elizabeth A. Thiele. Tuberous Sclerosis Complex: Genes, Clinical Features and Therapeutics. Wiley & Sons, Incorporated, John, 2011.

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28

Tuberous Sclerosis Complex: Genes, Clinical Features and Therapeutics. Wiley-VCH Verlag GmbH, 2010.

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29

Harris, Ray. It's Not His Fault: Our ongoing challenge with Tuberous sclerosis. Publicious Pty Ltd, 2018.

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30

Curatolo, Paolo. Tuberous Sclerosis Complex: From Basic Science to Clinical Phenotypes (International Review of Child Neurology (Mac Keith Press)). MacKeith Press, 2003.

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31

Johnson, William G. Tuberous Sclerosis and Allied Disorders: Clinical, Cellular, and Molecular Studies (Annals of the New York Academy of Sciences). New York Academy of Sciences, 1991.

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32

Michels, Virginia V. Genetics. Oxford University Press, 2012. http://dx.doi.org/10.1093/med/9780199755691.003.0276.

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Genetic factors play a role in the development of many types of human disease. Genetic determinants may be chromosome abnormalities (Down syndrome, Kleinfelter syndrome, Turner syndrome), single gene defects (dilated and hypertrophic cardiomyopathies, Ehlers-Danlos syndrome, Marfan syndrome, neurofibromatosis, tuberous sclerosis, Gaucher disease, cystic fibrosis, sickle cell disease), mitochondrial mutations (MELAS, MERRF, Kearns-Sayre syndrome), or epigenetic or multifactorial factors. Genetics testing methods are also reviewed.
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33

News, PM Medical Health. 21st Century Complete Medical Guide to Tuberous Sclerosis (TSC): Authoritative Government Documents, Clinical References, and Practical Information for Patients and Physicians. Progressive Management, 2004.

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34

(Editor), Michihito Niimura, Fujio Otsuka (Editor), and Okio Hino (Editor), eds. Phacomatosis in Japan: Epidemiology, Clinical Picture and Molecular Biology (Gann Monograph on Cancer Research, 46). S Karger Pub, 1999.

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35

Jolly, Elaine, Andrew Fry, and Afzal Chaudhry, eds. Genetics. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780199230457.003.0010.

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Chapter 10 covers the basic science and clinical topics relating to genetics which trainees are required to learn as part of their basic training and demonstrate in the MRCP. It covers karyotype, mitosis, and meiosis, mechanisms of inheritance/disease transmission, mitochondrial disease, trinucleotide repeats and imprinting, investigative techniques in genetic medicine, Down syndrome, Klinefelter syndrome, Turner syndrome, neurofibromatosis, tuberous sclerosis, myotonic dystrophy, Friedreich ataxia, fragile X syndrome, Prader-Willi syndrome, Angelman syndrome, and Ehlers-Danlos syndrome.
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36

Sybert, Virginia P. Disorders of the Dermis. Oxford University Press, 2012. http://dx.doi.org/10.1093/med/9780195397666.003.0005.

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Collagen – Ainhum – Amniotic Bands – Buschke-Ollendorff Syndrome – Dermatosparaxis – Ehlers-Danlos Syndromes – Ehlers-Danlos Types I, II, and III – Ehlers-Danlos Type IV – Ehlers-Danlos Type VI – Ehlers-Danlos Type VIII – Reactive Perforating Collagenosis – Elastin – Costello Syndrome – Cutis Laxa – Pseudoxanthoma Elasticum – Vascular – Ataxia Telangiectasia – Blue Rubber Bleb Nevus Syndrome – Cutis Marmorata Telangiectatica Congenita – Fabry Syndrome – Familial Flame Nevi – Hereditary Glomus Tumors – Hereditary Hemorrhagic Telangiectasia – Klippel-Trenaunay-Weber Syndrome – Maffucci Syndrome – Sturge-Weber Syndrome – Mixed – Aplasia Cutis Congenita – Focal Dermal Hypoplasia – Tuberous Sclerosis – Other Disorders of the Dermis – Albright Hereditary Osteodystrophy – Cutis Verticis Gyrata – Familial Dysautonomia – François Syndrome – Lipoid Proteinosis – Multiple Pterygia – Systemic Hyalinosis
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37

Talati, Asha N., and David N. Hackney. Neurocutaneous Disorders in Pregnancy. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780190667351.003.0028.

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Neurocutaneous disorders are rare genetic conditions that can produce malformations of skin and various organ systems. During pregnancy, such conditions often require a specific course of management with coordinated care between neurology, obstetrics, and neonatology in order to promote best maternal and fetal outcomes. This chapter reviews the most common neurocutaneous conditions and best practices for management of these conditions in pregnancy. Neurocutaneous conditions discussed in this chapter include neurofibromatosis types I and II, Ehlers Danlos syndrome, Tuberous Sclerosis, Von Hippel Lindau syndrome, and Hereditary Hemorrhagic Telangiectasia. For each condition, brief overviews of disease manifestation followed by a summary of recommendations for pregnancy care path are provided.
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38

Grant, Robert. Neurocutaneous syndromes. Oxford University Press, 2011. http://dx.doi.org/10.1093/med/9780198569381.003.0235.

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This chapter describes several neurocutaneous syndromes, including tuberous sclerosis, neurofibromatosis, Sturge–Weber syndrome, Von-Hippel–Lindau disease and ataxia telangiectasia amongst others.Tuberous sclerosis, also known as Epiloia or Bournville’s Disease, is an autosomal dominant multisystem disease it usually presents in childhood with a characteristic facial rash, adenoma sebaceum, seizures, and sometimes learning difficulties. Central nervous system lesions in tuberous sclerosis are due to a developmental disorder of neurogenesis and neuronal migration. Other organs such as the heart and kidney are less commonly involved. The condition has very variable clinical expression and two-thirds of cases are thought to be new mutations, therefore it is important to examine and screen relatives. Management may involve many specialists and close co-operation between specialists is essential.The neurofibromatoses are autosomal-dominant neurocutaneous disorders that can be divided into ‘peripheral’ and ‘central’ types, although there is significant overlap. The characteristic features of neurofibromatosis type 1 are café au lait spots, neurofibromas, Lisch nodules, osseous lesions, macrocephaly, short stature and mental retardation, axillary freckling, and associations with several different types of tumours.Sturge–Weber syndrome involves a characteristic ‘port-wine’ facial naevus or angioma associated with an underlying leptomeningeal angioma or other vascular anomaly. It affects approximately 1/20 000 people. There can be seizures, low IQ, and underlying cerebral hemisphere atrophy as a result of chronic state of reduced perfusion and increased oxygen extraction. Patients may present with focal seizures which are generally resistant to anticonvulsant medication and can develop glaucoma.Von-Hippel– Lindau disease is one of the most common autosomal-dominant inherited genetic diseases that are associated with familial cancers. Von-Hippel–Lindau disease is characterized by certain types of central nervous system tumours, cerebellar and spinal haemangioblastomas, and retinal angiomas, in conjunction with bilateral renal cysts carcinomas or phaechromocytoma, or pancreatic cysts/islet cell tumours (Neumann and Wiestler 1991).Other neurocutaneous syndromes discussed include Hypomelanosis of Ito, Gorlin syndrome, Sjogren–Larsson syndrome, Proteus syndrome, Hemiatrophy and hemihypertrophy, Menke’s syndrome, Xeroderma pigmentosum and Cockayne’s syndrome.
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39

Jordan, Nerissa. Neurocutaneous syndromes. Edited by Patrick Davey and David Sprigings. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780199568741.003.0224.

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The neurocutaneous syndromes comprise a diverse group of rare genetic disorders with both neurological and cutaneous manifestations. Each syndrome has a distinct phenotype. Symptoms are variable and depend on the syndrome. Neurocutaneous syndromes often present in childhood or adolescence; for example, tuberous sclerosis typically presents in early childhood. The age range of presentation is broad, depending on the specific condition and severity of expression. The majority are autosomally inherited conditions. De novo mutations can occur. Most neurocutaneous syndromes do not have a specific treatment, and management is predominantly supportive and aimed at symptom reduction and appropriate monitoring. This chapter discusses neurocutaneous syndromes, including their symptoms, demographics, etiologies, natural history, complications, diagnosis, prognosis, and treatment.
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40

Sybert, Virginia P. Disorders of the Dermis. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780190276478.003.0005.

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Chapter 5 covers Collagen disorders (Ainhum, Amniotic Bands, Buschke-Ollendorff Syndrome, Dermatosparaxis), Ehlers-Danlos Syndromes (Ehlers-Danlos Types I, II, and III, Ehlers-Danlos Type IV, Ehlers-Danlos Type VI, Ehlers-Danlos Type VIII, and Reactive Perforating Collagenosis), Elastin (Costello Syndrome, Cutis Laxa, and Pseudoxanthoma Elasticum), Vascular disorders (Ataxia Telangiectasia, Cutis Marmorata Telangiectatica Congenita, Fabry Syndrome, Familial Flame Nevi, Hereditary Glomus Tumors, Hereditary Hemorrhagic Telangiectasia, Klippel-Trenaunay-Weber Syndrome, Maffucci Syndrome, and Sturge-Weber Syndrome, and Multiple Cutaneous and Mucosal Venous Malformations), Mixed disorders (Aplasia Cutis Congenita, Focal Dermal Hypoplasia, Tuberous Sclerosis Complex), and other Disorders of the Dermis (Albright Hereditary Osteodystrophy, Cutis Verticis Gyrata, Familial Dysautonomia, François Syndrome, Hyaline Fibromatosis Syndrome, Lipoid Proteinosis, and Multiple Pterygia). Each condition is discussed in detail, including dermatologic features, associated anomalies, histopathology, basic defect, treatment, mode of inheritance, prenatal diagnosis, and differential diagnosis.
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41

Hsieh, David T., and Elizabeth A. Thiele. Ketogenic Diet for Other Epilepsies. Edited by Eric H. Kossoff. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780190497996.003.0007.

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The ketogenic diet is the treatment of choice for epilepsy in certain disorders of brain metabolism, in particular glucose transporter protein 1 deficiency and pyruvate dehydrogenase deficiency. The International Ketogenic Diet Study Group has listed several other conditions for which the ketogenic diet has been reported as being particularly beneficial and could be offered earlier. Whether efficacy in these conditions is due in part to the broad-spectrum efficacy of the ketogenic diet or to specific mechanisms specific to these conditions is still under investigation. This chapter discusses the use of dietary therapies for the treatment of epilepsy in certain genetic disorders, including Rett syndrome and tuberous sclerosis complex, as listed by the International Ketogenic Diet Study Group, and additionally discusses the use of epilepsy dietary therapies in patients with Angelman syndrome and Sturge-Weber syndrome.
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42

Krueger, Darcy A., and Jamie Capal. Familial CNS Tumor Syndromes. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780199937837.003.0136.

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Tuberous sclerosis complex is an autosomal dominant multi-system disease that involves the skin, brain, heart, lungs, and kidneys and is associated with seizures including infantile spasms, intellectual disability, autism and pulmonary and heart disease. Skin lesions can be particularly disfiguring and infantile spasms can be associated with marked cognitive decline. The outlook for patients has improved markedly with the recognition that TSC is caused by upregulation of the mammalian target of rapamycin (mTOR) enzyme, which connects energy needs and supply with cellular and neuronal growth. mTOR is upregulated in TSC because of mutations in hamartin or tuberin, which normally serve as a brake on mTOR. The drug rapamycin is commonly used as an immunosuppressive for patients undergoing kidney transplants; it has also found a new use in patients with TSC. Although the drug is immunosuppressive for non-TSC patients, careful titration of the drug in TSC patients corrects its upregulation but is not particulary immunosuppressive. Additional mTOR inhibitors such as everolimus have been developed and have been shown to be effective for pulmonary disease associated with TSC. Rapamycin in ointment form is dramatically effective in suppressing skin lesions of TSC and studies are underway to test the effect of mTOR inhibitors on seizures, brain tubers, intellect, and features of autism. Infantile spasms associated with TSC are very responsive to vigabatrin.
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43

O’Neill, Brian P., Jeffrey Allen, Mitchell S. Berger, and Rolf-Dieter Kortmann. Astrocytic tumours: pilocytic astrocytoma, pleomorphic xanthoastrocytoma, and subependymal giant cell astrocytoma. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780199651870.003.0002.

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Pilocytic astrocytoma (PA) (World Health Organization (WHO) grade I). A relatively circumscribed, slow-growing, often cystic astrocytoma occurring in children and young adults, histologically characterized by a biphasic pattern with varying proportions of compacted bipolar cells associated with Rosenthal fibres and loose-textured multipolar cells associated with microcysts and eosinophilic granular bodies. Most PAs are localized, macrocystic, and only marginally infiltrative. However some PAs, such as those arising in the optic pathways, are rarely cystic and may have an extensive infiltrative pattern but within a neuroanatomic pathway. Pleomorphic xanthoastrocytoma (PXA) (WHO grade II). An astrocytic neoplasm with a relatively favourable prognosis, typically encountered in children and young adults, with superficial location in the cerebral hemispheres and involvement of the meninges; characteristic histological features include pleomorphic and lipidized cells expressing glial fibrillary acidic protein and often surrounded by a reticulin network as well as eosinophilic granular bodies. Subependymal giant cell astrocytoma (SEGA) (WHO grade I). A benign, slow-growing tumour typically arising in the wall of the lateral ventricles and composed of large ganglioid astrocytes. It is the most common CNS neoplasm in patients with tuberous sclerosis.
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