Leveraging a Sturge-Weber Gene Discovery: An Agenda for Future Research

Comi, Anne M.; Şahin, Mustafa; Hammill, Adrienne M.; Kaplan, Emma; Juhász, Csaba; North, Paula E.; Ball, Karen L.; Levin, Alex V.; Cohen, Bernard A.; Morris, Jill A.; Lo, Warren; Roach, E. Steve; Abreu, Nicolas J.; Acosta, Maria T.; Berrocal, Audina M.; Bischoff, Joyce; Brodie, James; Burkhart, Craig N.; Dymerska, Gosia; Eckstein, David J.; Enriquez-Algeciras, Mabel; Ewen, Joshua B.; Fisher, Brian; Freedman, Sharon F.; Germain‐Lee, Emily L.; Geronemus, Roy G.; Gold, Michael S.; Gopal-Srivastava, Rashmi; Hebert, Adelaide A.; Huang, Lan; Jampel, Henry D.; Kaseka, Matsanga Leyila; Kirkorian, Yasmine; Kossoff, Eric H.; Lin, Doris; Loeb, Jeffrey A.; Marathe, Kalyani; Marchuk, Douglas A.; Mead, A.; Mellis, Scott; Murray, Timothy G.; Phung, Thuy L.; Pinto, Anna; Puttgen, Kate; Ratner, Nancy; Reeve, Jennifer; Roach, Steve; Swindell, Charles S.; Tseng, Hung L.; Tune, Miriya; Wetzel-Strong, Sarah E.; White, Monica M.; Whittemore, Vicky

doi:10.1016/j.pediatrneurol.2015.11.009

Cited by 20 publications

(10 citation statements)

References 51 publications

(58 reference statements)

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“…The Tissue Banking Group of the 2015 SWS Workshop concluded that a paucity of available tissues from SWS patients for research is a significant impediment to progress and can be alleviated by further development of a centralized tissue banking system. 82 Several limitations currently exist in the procurement of tissue samples, which inhibit research progress. Investigators who have to date made important advances in understanding the underlying biology of SWS have necessity relied on very limited “private” archives of often haphazardly collected and inconsistently preserved affected tissues (skin and brain).…”

Section: Tissue Bankingmentioning

confidence: 99%

A Multidisciplinary Consensus for Clinical Care and Research Needs for Sturge-Weber Syndrome

Torre

Luat

Juhász

et al. 2018

Pediatric Neurology

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Section: Tissue Bankingmentioning

confidence: 99%

A Multidisciplinary Consensus for Clinical Care and Research Needs for Sturge-Weber Syndrome

Torre

Luat

Juhász

et al. 2018

Pediatric Neurology

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“…An animal model would facilitate understanding of epilepsy pathogenesis in SWS, and efforts to create such a model are underway ( 143 ). However, there are several challenges to generating a model of a disorder with somatic mosaic mutations involving gain-of-function.…”

Section: Sturge–weber Syndromementioning

confidence: 99%

Epilepsy Mechanisms in Neurocutaneous Disorders: Tuberous Sclerosis Complex, Neurofibromatosis Type 1, and Sturge–Weber Syndrome

2017

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Neurocutaneous disorders are multisystem diseases affecting skin, brain, and other organs. Epilepsy is very common in the neurocutaneous disorders, affecting up to 90% of patients with tuberous sclerosis complex (TSC) and Sturge–Weber syndrome (SWS), for example. The mechanisms underlying the increased predisposition to brain hyperexcitability differ between disorders, yet some molecular pathways overlap. For instance, the mechanistic target of rapamycin (mTOR) signaling cascade plays a central role in seizures and epileptogenesis in numerous acquired and genetic disorders, including several neurocutaneous disorders. Potential routes for target-specific treatments are emerging as the genetic and molecular pathways involved in neurocutaneous disorders become increasingly understood. This review explores the clinical features and mechanisms of epilepsy in three common neurocutaneous disorders—TSC, neurofibromatosis type 1, and SWS.

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“…Currently, mTOR inhibitors are effective for treating SEGAs 17 , 33 , 34 , AML 35 , 36 , AF 37 , 38 , lymphangioleiomyomatosis 36 , 39 , 40 , epileptic seizures 21 , 41 , and others 42 , and thus, physicians’ attention to mTOR inhibitors is increasing. As the mTOR pathway may be associated with autism 43 , 44 , epilepsy 45 , focal cortical dysplasia 46 , and Sturge-Weber syndrome 47 , use of mTOR inhibitors may produce better outcomes in various neurological disorders. Specialists may prescribe mTOR inhibitors according to dysfunction of the organ system in which they specialize, and this may lead to confusion when specialists do not communicate with each other.…”

Section: Discussionmentioning

confidence: 99%

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

Fujimoto

Okanishi

Imai

et al. 2018

Sci Rep

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Tuberous sclerosis complex (TSC) is an autosomal dominant inherited disease characterized by lesions that involve multiple organs. Interdisciplinary management at individual facilities needs to be coordinated to treat multiple organ systems. We hypothesized that the number of patients, opportunities for patients to undergo examinations, and opportunities for patients to be treated would increase after establishment of a TSC board (TB) in our hospital. From August 1979 to August 2017, 76 patients were studied. We established the TB in our hospital in 2014. We divided the patients into the pre-TB group and post-TB group. Patients consisted of 33 females and 43 males (mean age, 18.7 years; median age, 15 years). The follow-up period was 2 to 457 months (mean, 51.6 months; median, 24.5 months). Twenty-four patients were in the pre-TB group, and 52 were in the post-TB group. Regular follow-up (p < 0.001), younger age (p = 0.002), opportunities for patients to undergo examinations, opportunities for patients to receive neurological treatment (p < 0.001), and mammalian target of rapamycin (mTOR) inhibitor usage (p = 0.041) were significantly higher in the post-TB group. The radial relationship around the axis of TSC coordinators may be the key to interdisciplinary management of TSC.

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Leveraging a Sturge-Weber Gene Discovery: An Agenda for Future Research

Cited by 20 publications

References 51 publications

A Multidisciplinary Consensus for Clinical Care and Research Needs for Sturge-Weber Syndrome

A Multidisciplinary Consensus for Clinical Care and Research Needs for Sturge-Weber Syndrome

Epilepsy Mechanisms in Neurocutaneous Disorders: Tuberous Sclerosis Complex, Neurofibromatosis Type 1, and Sturge–Weber Syndrome

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

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