|
| 37437211 | Models of KPTN-related disorder implicate mTOR signalling in cognitive and overgrowth phenotypes. | Brain | 2023 |
| 36307217 | Clinical Features, Neuropathology, and Surgical Outcome in Patients With Refractory Epilepsy and Brain Somatic Variants in the Gene. | Neurology | 2023 |
| 37739137 | SLC35A2 somatic variants in drug resistant epilepsy: FCD and MOGHE. | | 2023 |
| 38077069 | Loss of <i>Slc35a2</i> alters development of the mouse cerebral cortex. | bioRxiv | 2023 |
| 37479502 | Vascularization in mTOR Mouse Mutants: An Effort Not in Vein. | | 2023 |
| 37311496 | Mild TSC phenotype and non-penetrance associated with a frameshift variant in TSC2 prompts caution in evaluating pathogenicity of frameshift variants. | | 2023 |
| 35136953 | NPRL3 loss alters neuronal morphology, mTOR localization, cortical lamination and seizure threshold. | Brain | 2022 |
| 36104396 | Author Correction: Coding and small non-coding transcriptional landscape of tuberous sclerosis complex cortical tubers: implications for pathophysiology and treatment. | Sci Rep | 2022 |
| 35819138 | BK channel properties correlate with neurobehavioral severity in three -linked channelopathy mouse models. | eLife | 2022 |
| 35441233 | Somatic variants in diverse genes leads to a spectrum of focal cortical malformations. | Brain | 2022 |
| 35030990 | Down-regulation of the brain-specific cell-adhesion molecule contactin-3 in tuberous sclerosis complex during the early postnatal period. | J Neurodev Disord | 2022 |
| 34953897 | Viral expression of constitutively active AKT3 induces CST axonal sprouting and regeneration, but also promotes seizures. | Experimental Neurology | 2022 |
| 34999833 | Abnormal activation of Yap/Taz contributes to the pathogenesis of tuberous sclerosis complex. | Human Molecular Genetics | 2022 |
| 35222243 | A Patient Perspective on Seizure Detection and Forecasting. | Frontiers in Neurology | 2022 |
| 33495377 | Association of Epileptic and Nonepileptic Seizures and Changes in Circulating Plasma Proteins Linked to Neuroinflammation. | Neurology | 2021 |
| 33619909 | STRADA-mutant human cortical organoids model megalencephaly and exhibit delayed neuronal differentiation. | Developmental Neurobiology | 2021 |
| 33942341 | MicroRNA-34a activation in tuberous sclerosis complex during early brain development may lead to impaired corticogenesis. | Neuropathol Appl Neurobiol | 2021 |
| 33052752 | mTORopathies: A Road Well-Traveled. | Epilepsy Currents | 2020 |
| 32457579 | Multimodal Analysis of STRADA Function in Brain Development. | Frontiers in Cellular Neuroscience | 2020 |
| 32781001 | Dynamic analysis of 4E-BP1 phosphorylation in neurons with Tsc2 or Depdc5 knockout. | Experimental Neurology | 2020 |
| 30762606 | The role of somatic mutational events in the pathogenesis of epilepsy. | Current Opinion in Neurology | 2019 |
| 31732331 | Mechanistic target of rapamycin (mTOR) signaling in status epilepticus. | Epilepsy and Behavior | 2019 |
| 31625153 | GATORopathies: The role of amino acid regulatory gene mutations in epilepsy and cortical malformations. | Epilepsia | 2019 |
| 30753417 | Polymicrogyria and GRIN1 mutations: altered connections, altered excitability. | Brain | 2018 |
| 29481864 | DEPDC5 and NPRL3 modulate cell size, filopodial outgrowth, and localization of mTOR in neural progenitor cells and neurons. | Neurobiology of Disease | 2018 |
| 29478616 | Tuberous sclerosis complex. | Handbook of Clinical Neurology | 2018 |
| 29283439 | Homozygous boricua TBCK mutation causes neurodegeneration and aberrant autophagy. | Ann Neurol | 2018 |
| 29679388 | Somatic SLC35A2 variants in the brain are associated with intractable neocortical epilepsy. | Ann Neurol | 2018 |
| 28135561 | Focal Cortical Dysplasia: Gene Mutations, Cell Signaling, and Therapeutic Implications. | Annual Review of Pathology: Mechanisms of Disease | 2017 |
| 28864461 | Somatic uniparental disomy of Chromosome 16p in hemimegalencephaly. | Cold Spring Harb Mol Case Stud | 2017 |
| 28808237 | Coding and small non-coding transcriptional landscape of tuberous sclerosis complex cortical tubers: implications for pathophysiology and treatment. | Sci Rep | 2017 |
| 28053551 | Genetics of tuberous sclerosis complex: implications for clinical practice. | Application of Clinical Genetics | 2017 |
| 27838154 | Dysregulation of PINCH signaling in mesial temporal epilepsy. | Journal of Clinical Neuroscience | 2017 |
| 26285051 | Familial cortical dysplasia caused by mutation in the mammalian target of rapamycin regulator NPRL3. | Annals of Neurology | 2016 |
| 27295297 | Novel Histopathological Patterns in Cortical Tubers of Epilepsy Surgery Patients with Tuberous Sclerosis Complex. | PLoS One | 2016 |
| 27340022 | The mTOR signalling cascade: paving new roads to cure neurological disease. | Nature Reviews Neurology | 2016 |
| 27330441 | Sending Mixed Signals: The Expanding Role of Molecular Cascade Mutations in Malformations of Cortical Development and Epilepsy. | Epilepsy Currents | 2016 |
| 27040691 | Mutations in TBCK, Encoding TBC1-Domain-Containing Kinase, Lead to a Recognizable Syndrome of Intellectual Disability and Hypotonia. | Am J Hum Genet | 2016 |
| 26459113 | mTOR pathway inhibition prevents neuroinflammation and neuronal death in a mouse model of cerebral palsy. | Neurobiology of Disease | 2016 |
| 26235615 | Impaired Reelin-Dab1 Signaling Contributes to Neuronal Migration Deficits of Tuberous Sclerosis Complex. | Cell Rep | 2015 |
| 25878179 | Hemispheric cortical dysplasia secondary to a mosaic somatic mutation in MTOR. | Neurology | 2015 |
| 25833943 | mTOR signaling in epilepsy: insights from malformations of cortical development. | Cold Spring Harbor Perspectives in Medicine | 2015 |
| 25523244 | Reply: HPV in focal cortical dysplasia. | Annals of Neurology | 2015 |
| 25853525 | Epileptogenic but MRI-normal perituberal tissue in Tuberous Sclerosis Complex contains tuber-specific abnormalities. | Acta Neuropathol Commun | 2015 |
| 26060899 | Focal Cortical Dysplasia. | Seminars in Neurology | 2015 |
| 26013804 | The enlarging spectrum of focal cortical dysplasias. | Brain | 2015 |
| 26000329 | Familial cortical dysplasia type IIA caused by a germline mutation in DEPDC5. | Annals of Clinical and Translational Neurology | 2015 |
| 26070982 | Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations of WDR73. | Brain | 2015 |
| 23081885 | Fetal brain mTOR signaling activation in tuberous sclerosis complex. | Cerebral Cortex | 2014 |
| 24122905 | Viral infection and focal cortical dysplasia. Reply. | Annals of Neurology | 2014 |