Publications by authors named "Sinead Heavin"

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A comparison of genomic diagnostics in adults and children with epilepsy and comorbid intellectual disability.
Katherine A Benson, Maire White, Nicholas M Allen, Susan Byrne, Robert Carton, Sinéad Heavin

Eur J Hum Genet· August 2020

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Genomic and clinical predictors of lacosamide response in refractory epilepsies.
Sinéad B Heavin, Mark McCormack, Stefan Wolking, Lisa Slattery, Nicole Walley

Epilepsia Open· December 2019

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Development of a genomics module within an epilepsy-specific electronic health record: Toward genomic medicine in epilepsy care.
Norman Delanty, Maire White, Katherine Benson, Mark McCormack, Sinead Heavin

Epilepsia· August 2019

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The phenotype of bilateral hippocampal sclerosis and its management in "real life" clinical settings.
Arjune Sen, Patricia Dugan, Piero Perucca, Daniel Costello, Hyunmi Choi, Sinead Heavin

Epilepsia· July 2018

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Early and effective treatment of KCNQ2 encephalopathy.
Tiziana Pisano, Adam L Numis, Sinéad B Heavin, Sarah Weckhuysen, Marco Angriman

Epilepsia· May 2015

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CHD2 myoclonic encephalopathy is frequently associated with self-induced seizures.
Rhys H Thomas, Lin Mei Zhang, Gemma L Carvill, John S Archer, Sinéad B Heavin

Neurology· March 2015

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Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis.
Hilary C Martin, Grace E Kim, Alistair T Pagnamenta, Yoshiko Murakami, Gemma L Carvill, Sinéad Heavin

Hum Mol Genet· June 2014

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Extending the KCNQ2 encephalopathy spectrum: clinical and neuroimaging findings in 17 patients.
Sarah Weckhuysen, Vanja Ivanovic, Rik Hendrickx, Rudy Van Coster, Helle Hjalgrim, Sinead B Heavin

Neurology· November 2013

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Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.
Gemma L Carvill, Sinéad B Heavin, Simone C Yendle, Jacinta M McMahon, Brian J O'Roak

Nat Genet· July 2013

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De novo mutations in ATP1A3 cause alternating hemiplegia of childhood.
Erin L Heinzen, Kathryn J Swoboda, Yuki Hitomi, Fiorella Gurrieri, Sophie Nicole, Sinéad Heavin

Nat Genet· September 2012

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Intracellular accumulation of high levels of gamma-aminobutyrate by Listeria monocytogenes 10403S in response to low pH: uncoupling of gamma-aminobutyrate synthesis from efflux in a chemically defined medium.
Kimon-Andreas G Karatzas, Orla Brennan, Sinéad Heavin, John Morrissey, Conor P O'Byrne

Appl Environ Microbiol· June 2010

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