Publications by authors named "Katherine B Howell"

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Deep tissue sequencing improves genetic diagnostic yield in focal cortical dysplasia.
Breana Galea, Joshua Reid, Samuel Gooley, Tom Witkowski, Tara Lane, Katherine B Howell

medRxiv· November 2025

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HCN2-Associated Neurodevelopmental Disorders: Data from Patients and Xenopus Cell Models.
Clara Houdayer, A Marie Phillips, Marie Chabbert, Jennifer Bourreau, Reza Maroofian, Katherine B Howell

Ann Neurol· September 2025

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Development and Adaptive Function in Individuals With -Related Disorders.
Beatrice Southby Goad, Jill Rodda, Meagan Allen, Daniel Bamborschke, Isabella Overmars, Katherine B Howell

Neurology· August 2025

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Scalable automated reanalysis of genomic data in research and clinical rare disease cohorts.
Matthew J Welland, K D Ahlquist, Paul De Fazio, Christina Austin-Tse, Lynn Pais, Katherine B Howell

medRxiv· May 2025

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International Precision Child Health Partnership (IPCHiP): an initiative to accelerate discovery and improve outcomes in rare pediatric disease.
Katherine B Howell, Susan M White, Amy McTague, Alissa M D'Gama, Gregory Costain

NPJ Genom Med· February 2025

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Nav1.2 channel mutations preventing fast inactivation lead to SCN2A encephalopathy.
Géza Berecki, Elaine Tao, Katherine B Howell, Rohini K Coorg, Erik Andersen

Brain· January 2025

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Fulfilling the needs of caregivers in delivering health services to children with developmental and epileptic encephalopathies.
Lauren Kelada, Stephanie Best, Kristine Pierce, Meagan Allen, Joanna Cobb, Katherine B Howell

Eur J Paediatr Neurol· January 2025

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The genetic landscape and classification of infantile epileptic spasms syndrome requiring surgery due to suspected focal brain malformations.
Matthew Coleman, Min Wang, Penny Snell, Wei Shern Lee, Colleen D'Arcy, Katherine B Howell

Brain Commun· January 2025

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Solving the Etiology of Developmental and Epileptic Encephalopathy with Spike-Wave Activation in Sleep (D/EE-SWAS).
Sindhu Viswanathan, Karen L Oliver, Brigid M Regan, Amy L Schneider, Candace T Myers, Katherine B Howell

Ann Neurol· November 2024

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Slc35a2 mosaic knockout impacts cortical development, dendritic arborisation, and neuronal firing.
James Spyrou, Khaing Phyu Aung, Hannah Vanyai, Richard J Leventer, Snezana Maljevic, Katherine B Howell

Neurobiol Dis· October 2024

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Identification and treatment of surgically-remediable causes of infantile epileptic spasms syndrome.
Emma Macdonald-Laurs, Winston Dzau, Aaron E L Warren, Matthew Coleman, Cristina Mignone, Katherine B Howell

Expert Rev Neurother· July 2024

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"Don't Throw the Baby out with the Bathwater".
Katherine B Howell, A Simon Harvey

Ann Neurol· April 2024

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Ectopic HCN4 Provides a Target Biomarker for the Genetic Spectrum of mTORopathies.
Matthew Coleman, Paulo Pinares-Garcia, Sarah E Stephenson, Wei Shern Lee, Daniz Kooshavar, Katherine B Howell

Neurol Genet· April 2024

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Mono and biallelic variants in cause severe neurodevelopmental disorders.
Clara Houdayer, A Marie Phillips, Marie Chabbert, Jennifer Bourreau, Reza Maroofian, Katherine B Howell

medRxiv· March 2024

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SLC6A1 variant pathogenicity, molecular function and phenotype: a genetic and clinical analysis.
Arthur Stefanski, Eduardo Pérez-Palma, Tobias Brünger, Ludovica Montanucci, Cornelius Gati, Katherine B Howell

Brain· December 2023

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Evaluation of the feasibility, diagnostic yield, and clinical utility of rapid genome sequencing in infantile epilepsy (Gene-STEPS): an international, multicentre, pilot cohort study.
Alissa M D'Gama, Sarah Mulhern, Beth R Sheidley, Fadil Boodhoo, Sarah Buts, Katherine B Howell

Lancet Neurol· September 2023

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Peri-ictal EEG in infants with PRRT2-related self-limited infantile epilepsy.
Nicola Fearn, Emma Macdonald-Laurs, Laura Moylan, Katherine B Howell

Epileptic Disord· August 2023

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Epilepsy syndromes in cerebral palsy: varied, evolving and mostly self-limited.
Monica S Cooper, Mark T Mackay, Charuta Dagia, Michael C Fahey, Katherine B Howell

Brain· February 2023

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Exome sequencing for patients with developmental and epileptic encephalopathies in clinical practice.
Ingrid E Scheffer, Caitlin A Bennett, Deepak Gill, Michelle G de Silva, Kirsten Boggs, Katherine B Howell

Dev Med Child Neurol· January 2023

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Complications of Influenza A or B Virus Infection in Individuals With -Positive Dravet Syndrome.
Katherine B Howell, Sophie Butcher, Amy L Schneider, Sophie Russ-Hall, Pearl R Muzariri

Neurology· January 2023

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Response to sequential treatment with prednisolone and vigabatrin in infantile spasms.
Winston Dzau, Sally Cheng, Penny Snell, Michael Fahey, Ingrid E Scheffer, Katherine B Howell

J Paediatr Child Health· December 2022

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Anesthetic considerations in Dravet syndrome.
Emma Macdonald-Laurs, Sebastian Corlette, Andrew Davidson, Katherine B Howell

Paediatr Anaesth· October 2022

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Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications.
Katrine M Johannesen, Yuanyuan Liu, Mahmoud Koko, Cathrine E Gjerulfsen, Lukas Sonnenberg, Katherine B Howell

Brain· September 2022

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Heterozygous PNPT1 Variants Cause Spinocerebellar Ataxia Type 25.
Mathieu Barbier, Melanie Bahlo, Alessandra Pennisi, Maxime Jacoupy, Rick M Tankard, Katherine B Howell

Ann Neurol· July 2022

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Functional correlates of clinical phenotype and severity in recurrent SCN2A variants.
Géza Berecki, Katherine B Howell, Jacqueline Heighway, Nelson Olivier, Jill Rodda

Commun Biol· May 2022

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