Publications by authors named "Kay A Metcalfe"

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Acute-onset axonal neuropathy following infection in children with biallelic RCC1 variants: a case series.
J Robert Harkness, John H McDermott, Shea Marsden, Peter Jamieson, Kay A Metcalfe

Lancet Neurol· August 2025

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Case Report: Prolonged survival in Schinzel-Giedion syndrome featuring megaureter and mutation.
Glenda M Beaman, Benjamin W Jarvis, Anju Goyal, David J B Keene, Max Cervellione, Kay A Metcalfe

Front Pediatr· March 2025

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Stankiewicz-Isidor syndrome: expanding the clinical and molecular phenotype.
Bertrand Isidor, Frédéric Ebstein, Anna Hurst, Marie Vincent, Ingrid Bader, Kay A Metcalfe

Genet Med· January 2022

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Missense variants in the N-terminal domain of the A isoform of FHF2/FGF13 cause an X-linked developmental and epileptic encephalopathy.
Andrew E Fry, Christopher Marra, Anna V Derrick, William O Pickrell, Adam T Higgins, Kay A Metcalfe

Am J Hum Genet· January 2021

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DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable Immunodeficiency.
Clare V Logan, Jennie E Murray, David A Parry, Andrea Robertson, Roberto Bellelli, Kay A Metcalfe

Am J Hum Genet· December 2018

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Corrigendum to "Childhood-onset generalized epilepsy in Bainbridge-Ropers syndrome" [Epilepsy Res. 140 (2018) 166-170].
Kenneth A Myers, Susan M White, Shehla Mohammed, Kay A Metcalfe, Andrew E Fry

Epilepsy Res· November 2018

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Childhood-onset generalized epilepsy in Bainbridge-Ropers syndrome.
Kenneth A Myers, Susan M White, Shehla Mohammed, Kay A Metcalfe, Andrew E Fry

Epilepsy Res· February 2018

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Heterozygous truncation mutations of the SMC1A gene cause a severe early onset epilepsy with cluster seizures in females: Detailed phenotyping of 10 new cases.
Joseph D Symonds, Shelagh Joss, Kay A Metcalfe, Suresh Somarathi, Jamie Cruden

Epilepsia· April 2017

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Mutations in the HECT domain of NEDD4L lead to AKT-mTOR pathway deregulation and cause periventricular nodular heterotopia.
Loïc Broix, Hélène Jagline, Ekaterina Ivanova, Stéphane Schmucker, Nathalie Drouot, Kay A Metcalfe

Nat Genet· November 2016

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