1. Lacosamide use in the treatment of refractory epilepsy in tuberous sclerosis complex

    Epilepsy Research 112:72 (2015)

    • Forty-eight percent of TSC patients with refractory epilepsy (n=46) were responders. • There were no differences between responders and non-responders. ...
  2. Angelman syndrome in adulthood.

    American Journal of Medical Genetics Part A 167A(2):331 (2015) PMID 25428759

    Angelman syndrome (AS) is a neurogenetic disorder. The goal of this study was to investigate the primary health issues affecting adults with AS and to further characterize the natural history and genotype-phenotype correlations. Standardized phone interviews with caregivers for 110 adolescents a...
  3. Absence of subependymal nodules in patients with tubers suggests possible neuroectodermal mosaicism in tuberous sclerosis complex.

    Developmental Medicine and Child Neurology 56(12):1207 (2014) PMID 24954233

    Patients with tuberous sclerosis complex (TSC) with brain involvement usually have both tubers and subependymal nodules (SENs) and the occurrence of one lesion without the other seems to be rare. The aim of this study was to assess the specific clinical manifestations and genotype of patients wi...
  4. Absence of subependymal nodules in patients with tubers suggests possible neuroectodermal mosaicism in tuberous sclerosis complex.

    Developmental Medicine and Child Neurology 56(12):1207 (2014) PMID 24954233

    Patients with tuberous sclerosis complex (TSC) with brain involvement usually have both tubers and subependymal nodules (SENs) and the occurrence of one lesion without the other seems to be rare. The aim of this study was to assess the specific clinical manifestations and genotype of patients wi...
  5. Absence of subependymal nodules in patients with tubers suggests possible neuroectodermal mosaicism in tuberous sclerosis complex.

    Developmental Medicine and Child Neurology 56(12):1207 (2014) PMID 24954233

    Patients with tuberous sclerosis complex (TSC) with brain involvement usually have both tubers and subependymal nodules (SENs) and the occurrence of one lesion without the other seems to be rare. The aim of this study was to assess the specific clinical manifestations and genotype of patients wi...
  6. Transition into adulthood: tuberous sclerosis complex, Sturge-Weber syndrome, and Rasmussen encephalitis.

    Epilepsia 55 Suppl 3:29 (2014) PMID 25209083

    Children with tuberous sclerosis complex, Sturge-Weber syndrome, and Rasmussen encephalitis all have complex but differing needs in the process of transition/transfer to adult care. All three may be associated with long-term normal intelligence or a varying degree of intellectual disability. In ...
  7. Renal cell carcinoma in tuberous sclerosis complex.

    The American Journal of Surgical Pathology 38(7):895 (2014) PMID 24832166 PMCID PMC4139167

    Renal cell carcinoma (RCC) occurs in 2% to 4% of patients with tuberous sclerosis complex (TSC). Previous reports have noted a variety of histologic appearances in these cancers, but the full spectrum of morphologic and molecular features has not been fully elucidated. We encountered 46 renal ep...
  8. The case for assessing cannabidiol in epilepsy.

    Epilepsia 55(6):787 (2014) PMID 24854434

    Intractable epilepsies have an extraordinary impact on cognitive and behavioral function and quality of life, and the treatment of seizures represents a challenge and a unique opportunity. Over the past few years, considerable attention has focused on cannabidiol (CBD), the major nonpsychotropic...
  9. Lymphedema in tuberous sclerosis complex.

    American Journal of Medical Genetics Part A 164A(6):1438 (2014) PMID 24668795

    Congenital lymphedema has been described as a possible rare association of tuberous sclerosis complex (TSC), with only six previous cases reported in the literature. TSC is an autosomal dominant, multisystem disorder connected to aberrant regulation of the mammalian target of rapamycin (mTOR) pa...
  10. Lymphedema in tuberous sclerosis complex.

    American Journal of Medical Genetics Part A 164A(6):1438 (2014) PMID 24668795

    Congenital lymphedema has been described as a possible rare association of tuberous sclerosis complex (TSC), with only six previous cases reported in the literature. TSC is an autosomal dominant, multisystem disorder connected to aberrant regulation of the mammalian target of rapamycin (mTOR) pa...
  11. The peculiar epidemiology of dracunculiasis in Chad.

    The Journal of tropical medicine and hygiene 90(1):61 (2014) PMID 24277785 PMCID PMC3886430

    Dracunculiasis was rediscovered in Chad in 2010 after an apparent absence of 10 years. In April 2012 active village-based surveillance was initiated to determine where, when, and how transmission of the disease was occurring, and to implement interventions to interrupt it. The current epidemiolo...
  12. Stressor-related disorders in tuberous sclerosis.

    PMID 23926580

    Patients with tuberous sclerosis complex (TSC) have high rates of psychiatric comorbidity, including mood and anxiety disorders. The aim of this study is to identify patients with stressor-related disorders such as posttraumatic stress disorder (PTSD) or adjustment disorder (AD) and to describe ...
  13. Elucidating the temporal and spatial dynamics of Biomphalaria glabrata genetic diversity in three Brazilian villages.

    Tropical Medicine and International Health 18(10):1164 (2013) PMID 23911082 PMCID PMC3783513

    The freshwater snail Biomphalaria glabrata is the principal intermediate host for the parasite Schistosoma mansoni within Brazil. We assessed the potential effects of snail population dynamics on parasite transmission dynamics via population genetics. We sampled snail populations located within ...
  14. Time interval required for return to baseline of the background rhythm on electroencephalogram after recorded electrographic seizures.

    Epilepsy Research 106(1-2):288 (2013) PMID 23684125

    Our objective was to assess the time interval that is required for the return to baseline of the background rhythm in the electroencephalogram (EEG) after ictal electrographic activity. We completed a retrospective EEG review of 28 adults and 13 children admitted to the epilepsy monitoring unit ...
  15. Epileptic spasms in tuberous sclerosis complex

    Epilepsy Research 106(1-2):200 (2013)

    • Epileptic spasms are not uncommon in older patients with tuberous sclerosis complex. • Epileptic spasms are difficult to treat, but vigabatrin proved effective f...
  16. Epileptic spasms in tuberous sclerosis complex.

    Epilepsy Research 106(1-2):200 (2013) PMID 23796861

    To characterize epileptic spasms (ES) occurring after the age of two years in patients with tuberous sclerosis complex (TSC), particularly treatment response to vigabatrin (VGB), which is extremely effective for infantile spasms (IS) in TSC. The authors retrospectively reviewed 19 patients with ...
  17. Time interval required for return to baseline of the background rhythm on electroencephalogram after recorded electrographic seizures

    Epilepsy Research 106(1-2):288 (2013)

    • Goal was to assess the duration of postictal slowing. • In children the average postictal slowing lasted 120min. • ...
  18. Implications of dietary therapy into the 21st century: conclusion to special issue.

    Journal of child neurology 28(8):1054 (2013) PMID 23666037

    The concept of dietary therapy for epilepsy has played an important role in the approach to the treatment of seizures for centuries--particularly with the development and utilization of the classic ketogenic diet over the past 90 years. Recently, there has been developing interest in the utiliza...
  19. The neuroanatomical phenotype of tuberous sclerosis complex: focus on radial migration lines.

    Neuroradiology 55(8):1007 (2013) PMID 23644537

    The contribution of radial migration lines (RMLs) to the neuroanatomical and neurocognitive phenotype of tuberous sclerosis complex (TSC) is unclear. The aim of this study was to perform a comprehensive evaluation of the neuroradiological phenotype of TSC, distinguishing RMLs from normal-appeari...
  20. Cardiac fat-containing lesions are common in tuberous sclerosis complex.

    American Journal of Medical Genetics Part A 161A(7):1662 (2013) PMID 23703751

    Tuberous sclerosis complex (TSC) is a highly variable, multisystem, genetic disorder that affects approximately 1:6,000 individuals. It has previously been thought that the cardiac manifestation of TSC is congenital rhabdomyomas, which occur during infancy and typically regress during childhood....