1. It's All about Those Bases: The Need for Incorporating Parasite Genetic Heterogeneity into the Development of Schistosome Vaccines.

    PLoS Neglected Tropical Diseases 9(6):e0003805 (2015) PMID 26086424 PMCID PMC4472511

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

    Epilepsy Research 112:72 (2015) PMID 25847341

    Lacosamide (LCS) was approved by the United States Food and Drug Administration (FDA) in 2008 as adjunctive therapy to other anti-epileptic drugs (AEDs) to treat focal-onset seizures, with or without secondary generalization. Its role in the treatment of epilepsy in individuals with tuberous scl...
  3. 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. ...
  4. Case records of the Massachusetts General Hospital. Case 12-2015. A newborn boy with respiratory distress, lethargy, and hypernatremia.

    New England Journal of Medicine 372(16):1550 (2015) PMID 25875261

  5. 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...
  6. Angelman syndrome in adulthood.

    American Journal of Medical Genetics Part A 167(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...
  7. 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...
  8. 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...
  9. 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...
  10. 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...
  11. 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 ...
  12. 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 ...
  13. 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...
  14. Intracranial arteriopathy in tuberous sclerosis complex.

    Journal of child neurology 29(7):912 (2014) PMID 24056157

    Arterial aneurysms, mostly aortic and intracranial, have been occasionally reported in patients with tuberous sclerosis complex. Brain magnetic resonance imaging reports of 404 patients with definite and 16 patients with either probable or possible tuberous sclerosis complex were revised for int...
  15. 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...
  16. 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...
  17. 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...
  18. 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...
  19. 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...
  20. 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...