Paul Lockhart

DCC regulates astroglial development essential for telencephalic morphogenesis and corpus callosum formation

Laura Morcom, Ilan Gobius, Ashley Pl Marsh, Rodrigo Suarez, Jonathan WC Lim, Caitlin Bridges, Yunan Ye, Laura R Fenlon, Yvrick Zagar, Amelia M Douglass, Amber-Lee S Donahoo, Thomas Fothergill, Samreen Shaikh, Peter Kozulin, Timothy J Edwards, Helen M Cooper, Elliott H Sherr, Alain Chedotal, Richard J Leventer, Paul J Lockhart, et al.

Journal article  |  2021  |  ELIFE

The forebrain hemispheres are predominantly separated during embryogenesis by the interhemispheric fissure (IHF). Radial astroglia..

Clonally Focused Public and Private T Cells in Resected Brain Tissue From Surgeries to Treat Children With Intractable Seizures

Julia W Chang, Samuel D Reyes, Emmanuelle Faure-Kumar, Sandi K Lam, Michael W Lawlor, Richard J Leventer, Sean M Lew, Paul J Lockhart, Kathryn Pope, Howard L Weiner, Noriko Salamon, Harry V Vinters, Gary W Mathern, Aria Fallah, Geoffrey C Owens

Journal article  |  2021  |  FRONTIERS IN IMMUNOLOGY

Using a targeted transcriptomics approach, we have analyzed resected brain tissue from a cohort of 53 pediatric epilepsy surgery c..

A DNA repair disorder caused by de novo monoallelic DDB1 variants is associated with a neurodevelopmental syndrome

Susan M White, Elizabeth Bhoj, Christoffer Nellaker, Augusta MA Lachmeijer, Aren E Marshall, Kym M Boycott, Dong Li, Wendy Smith, Taila Hartley, Arran McBride, Michelle E Ernst, Alison S May, Dagmar Wieczorek, Rami Abou Jamra, Margarete Koch-Hogrebe, Katrin Ounap, Sander Pajusalu, KL van Gassen, Simon Sadedin, Sara Ellingwood, et al.

Journal article  |  2021  |  AMERICAN JOURNAL OF HUMAN GENETICS

The DNA damage-binding protein 1 (DDB1) is part of the CUL4-DDB1 ubiquitin E3 ligase complex (CRL4), which is essential for DNA re..

Resection of tuber centers only for seizure control in tuberous sclerosis complex

Sarah EM Stephenson, Wirginia J Maixner, Sarah M Barton, Colleen D'Arcy, Simone A Mandelstam, Duncan MacGregor, Paul J Lockhart, Richard J Leventer, A Simon Harvey

Journal article  |  2021  |  EPILEPSY RESEARCH

Our previous studies suggest the tuber center is the seizure focus in tuberous sclerosis complex (TSC). We report findings from 5 ..

Clinical seizure manifestations in the absence of synaptic connections

Emma Macdonald-Laurs, Catherine A Bailey, Sarah Barton, Joseph Yuan-Mou Yang, Simone Mandelstam, Duncan Macgregor, Paul J Lockhart, Richard J Leventer, Wirginia J Maixner, A Simon Harvey

Journal article  |  2021  |  EPILEPTIC DISORDERS

We report a child with a history of temporal-parietal-occipital disconnection for epilepsy secondary to posterior quadrantic dyspl..

Gradient of brain mosaic RHEB variants causes a continuum of cortical dysplasia

Wei Shern Lee, Sara Baldassari, Mathilde Chipaux, Homa Adle-Biassette, Sarah EM Stephenson, Wirginia Maixner, A Simon Harvey, Paul J Lockhart, Stephanie Baulac, Richard J Leventer

Journal article  |  2021  |  ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY

Focal cortical dysplasia (FCD) and hemimegalencephaly (HME) are related malformations with shared etiologies. We report three pati..

Generation of four iPSC lines from Neurofibromatosis Type 1 patients

Kiymet Bozaoglu, Wei Shern Lee, Kristina M Haebich, Kathryn N North, Jonathan M Payne, Paul J Lockhart

Journal article  |  2020  |  STEM CELL RESEARCH

We describe the generation and characterisation of four human induced pluripotent stem cell (iPSC) lines from peripheral blood mon..

Clinical spectrum of the pentanucleotide repeat expansion in the RFC1 gene in ataxia syndromes

Maria Gisatulin, Valerija Dobricic, Christine Zuehlke, Yorck Hellenbroich, Vera Tadic, Alexander Muenchau, Klaus Isenhardt, Katrin Buerk, Melanie Bahlo, Paul J Lockhart, Katja Lohmann, Christoph Helmchen, Norbert Brueggemann

Journal article  |  2020  |  NEUROLOGY

OBJECTIVE: To determine the clinical significance of an intronic biallelic pentanucleotide repeat expansion in the gene encoding r..

Genetic characterization identifies bottom-of-sulcus dysplasia as an mTORopathy

Wei Shern Lee, Sarah EM Stephenson, Kate Pope, Greta Gillies, Wirginia Maixner, Emma Macdonald-Laurs, Duncan MacGregor, Colleen D'Arcy, Graeme Jackson, A Simon Harvey, Richard J Leventer, Paul J Lockhart

Journal article  |  2020  |  NEUROLOGY

OBJECTIVE: To determine the genetic basis of bottom-of-sulcus dysplasia (BOSD), which is a highly focal and epileptogenic cortical..

Tracing Autism Traits in Large Multiplex Families to Identify Endophenotypes of the Broader Autism Phenotype

Krysta J Trevis, Natasha J Brown, Cherie C Green, Paul J Lockhart, Tarishi Desai, Tanya Vick, Vicki Anderson, Emmanuel PK Pua, Melanie Bahlo, Martin B Delatycki, Ingrid E Scheffer, Sarah J Wilson

Journal article  |  2020  |  INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Families comprising many individuals with Autism Spectrum Disorders (ASD) may carry a dominant predisposing mutation. We implement..