Hippocampal sclerosis and associated focal cortical dysplasia-related epilepsy in neurofibromatosis type I

Gales, Jordan; Prayson, Richard A.

doi:10.1016/j.jocn.2016.10.048

Cited by 18 publications

(8 citation statements)

References 16 publications

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“…Drug-resistant epilepsy, defined as a failure to respond to more than two anti-seizure medications, occurred in 2 out of our 37 patients; three other patients did not respond to only one trial of treatment. Such a proportion of uncontrolled seizures is compatible with what has been previously described [ 35 ]. An abnormality in neuroimaging was observed in both the drug-resistant patients (i.e., hydrocephalus in one patient and a non-OPG brain neoplasia in another case), but the sample was too small to infer any correlation between structural abnormalities and drug resistance.…”

Section: Resultssupporting

confidence: 90%

Epilepsy in NF1: Epidemiologic, Genetic, and Clinical Features. A Monocentric Retrospective Study in a Cohort of 784 Patients

Sorrentino

Bellonzi

Mozzato

et al. 2021

Cancers

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An increased lifetime risk of epilepsy has been reported in neurofibromatosis type 1 (NF1) patients, ranging between 4% and 14%. To further analyze the correlation between NF1 and epilepsy, we retrospectively reviewed the epidemiologic, clinical, radiological, and molecular data of 784 unselected patients diagnosed with NF1 and referred to the neurofibromatosis outpatient clinics at the University Hospital of Padua. A crude prevalence of epilepsy of 4.7% was observed. In about 70% of cases, seizures arose in the context of neuroradiological findings, with the main predisposing factors being cerebral vasculopathies and hydrocephalus. In the absence of structural abnormalities, the prevalence of epilepsy was found to be 1.27%, which is approximately equal to the total prevalence in the general population. NF1 patients with seizures exhibit a higher incidence of intellectual disability and/or developmental delay, as well as of isolated learning disabilities. The comparison of causative NF1 mutations between the two groups did not reveal a specific genotype–phenotype correlation. Our data refine the current knowledge on epileptological manifestations in NF1 patients, arguing against the hypothesis that specific mechanisms, inherent to neurofibromin cellular function, might determine an increased risk of epilepsy in this condition.

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Section: Resultssupporting

confidence: 90%

Epilepsy in NF1: Epidemiologic, Genetic, and Clinical Features. A Monocentric Retrospective Study in a Cohort of 784 Patients

Sorrentino

Bellonzi

Mozzato

et al. 2021

Cancers

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“…Seizures in NF1 are often relatively easy to control with one or more conventional antiseizure drugs; surgical resection of offending lesions is sometimes pursued. Surgery has been most successful for temporal lobe gliomas [18,21]. However, if you faced the drug-resistant epilepsy you may consider the cortical malformations, tumors and HS.…”

Section: Discussionmentioning

confidence: 99%

Pharmacoresistant seizures in neurofibromatosis type 1 related to hippocampal sclerosis: Three case presentation and review

Algin

Tezer

Oğuz

et al. 2019

Journal of Clinical Neuroscience

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“…Intriguingly, UBOs often disappear by adulthood and their role in nervous system dysfunction is unclear (88). Also, cortical malformations, in the form of disordered cortical architecture, have been documented (85, 89). …”

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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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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Hippocampal sclerosis and associated focal cortical dysplasia-related epilepsy in neurofibromatosis type I

Cited by 18 publications

References 16 publications

Epilepsy in NF1: Epidemiologic, Genetic, and Clinical Features. A Monocentric Retrospective Study in a Cohort of 784 Patients

Epilepsy in NF1: Epidemiologic, Genetic, and Clinical Features. A Monocentric Retrospective Study in a Cohort of 784 Patients

Pharmacoresistant seizures in neurofibromatosis type 1 related to hippocampal sclerosis: Three case presentation and review

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

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