Epileptic seizures in neurofibromatosis type 1 are related to intracranial tumors but not to neurofibromatosis bright objects

Hsieh, Hsiang‐Yao; Fung, Hon-Chung; Wang, Chao-Jan; Chin, Shy-Chyi; Wu, Tony

doi:10.1016/j.seizure.2011.04.016

Cited by 52 publications

(41 citation statements)

References 24 publications

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“…Gliomas of the hemispheres, brainstem, or cerebellum can also occur, which are mostly pilocytic or diffuse astrocytomas (Figure 1B1). In addition to gliomas, central nervous system lesions in NF1 frequently include T2-hyperintensities on MRI scan, known as “unidentified bright objects” (UBOs) (Figure 1B2) (84). Autopsy studies have demonstrated that UBOs are vacuolar changes in myelin sheaths with dysplastic glial proliferation, often seen in the cerebellum, basal ganglia, subcortical white matter, and thalamus (85).…”

Section: Neurofibromatosis Typementioning

confidence: 99%

“…Thus, seizure occurrence requires neuroimaging, even if previous neuroimaging was normal. The relationship of UBOs to seizures is controversial, but most studies have concluded that UBOs are not associated with seizures (84, 96). Seizures in NF1 are often relatively easy to control with one or more conventional antiseizure drugs; surgical resection of offending lesions is sometimes pursued (98).…”

Section: Neurofibromatosis Typementioning

confidence: 99%

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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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Section: Neurofibromatosis Typementioning

confidence: 99%

Section: Neurofibromatosis Typementioning

confidence: 99%

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

2017

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“…27 In population studies, there is a left shift in mean IQ scores from 100 in the general population to 85 in children with NF1, although 6-7 % of children have IQ scores less than 70. 3,[29][30][31][32][33] Focal seizures are the most common type, and the refractory nature of the seizures has been debated (A.P. 3,[29][30][31][32][33] Focal seizures are the most common type, and the refractory nature of the seizures has been debated (A.P.…”

Section: Neurofibromatosis Typementioning

confidence: 99%

“…28 Individuals with NF1 are also more likely to have seizures, with an incidence of 4-9%. [31][32][33][34] Seizures are more likely to occur in individuals with an intracranial tumor, which should prompt clinicians to obtain brain neuroimaging (A.P. Ostendorf, D.H. Gutmann and J.L.…”

Section: Neurofibromatosis Typementioning

confidence: 99%

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Neurofibromatoses

Ostendorf

Gutmann

2015

Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease

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Evaluation of participant recruitment methods to a rare disease online registry

Johnson

Mueller

Williams

et al. 2014

American J of Med Genetics Pt A

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Internet communication advances provide new opportunities to assemble individuals with rare diseases to online patient registries from wide geographic areas for research. However, there is little published information on the efficacy of different recruitment methods. Here we describe recruitment patterns and the characteristics of individuals with the self-identified autosomal dominant genetic disorder neurofibromatosis type 1 (NF1) who participated in an online patient registry during the 1-year period from 1/1/2012 to 12/31/2012. We employed four main mechanisms to alert potential participants to the registry: (1) Facebook and Google advertising, (2) government and academic websites, (3) patient advocacy groups, and (4) healthcare providers. Participants reported how they first heard about the registry through an online questionnaire. During the 1-year period, 880 individuals participated in the registry from all 50 U.S. States, the District of Columbia, Puerto Rico, and 39 countries. Facebook and Google were reported as referral sources by the highest number of participants (n=550, 72% Facebook), followed by healthcare providers (n=74), and government and academic websites (n=71). The mean participant age was 29±18 years and most participants reported White race (73%) and female sex (62%) irrespective of reported referral source. Internet advertising, especially through Facebook, resulted in efficient enrollment of large numbers of individuals with NF1. Our study demonstrates the potential utility of this approach to assemble individuals with a rare disease from across the world for research studies.

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Epileptic seizures in neurofibromatosis type 1 are related to intracranial tumors but not to neurofibromatosis bright objects

Abstract: The occurrence of epileptic seizures in NF1 patients is related to intracranial tumors but not to NBOs.

Cited by 52 publications

References 24 publications

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

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

Neurofibromatoses

Evaluation of participant recruitment methods to a rare disease online registry

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