Publications by authors named "Catherine Shain"

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Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes.
Siwei Chen, Bassel W Abou-Khalil, Zaid Afawi, Quratulain Zulfiqar Ali, Elisabetta Amadori, Catherine Shain

medRxiv· September 2024

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Genetic diagnoses in epilepsy: The impact of dynamic exome analysis in a pediatric cohort.
Anne Rochtus, Heather E Olson, Lacey Smith, Louisa G Keith, Christelle El Achkar, Catherine Shain

Epilepsia· February 2020

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Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability.
Benjamin Cogné, Sophie Ehresmann, Eliane Beauregard-Lacroix, Justine Rousseau, Thomas Besnard, Catherine Shain

Am J Hum Genet· March 2019

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Somatic SLC35A2 variants in the brain are associated with intractable neocortical epilepsy.
Melodie R Winawer, Nicole G Griffin, Jorge Samanamud, Evan H Baugh, Dinesh Rathakrishnan, Catherine Shain

Ann Neurol· June 2018

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Familial aggregation of focal seizure semiology in the Epilepsy Phenome/Genome Project.
Steven Tobochnik, Robyn Fahlstrom, Catherine Shain, Melodie R Winawer,

Neurology· July 2017

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Genetics and genotype-phenotype correlations in early onset epileptic encephalopathy with burst suppression.
Heather E Olson, McKenna Kelly, Christopher M LaCoursiere, Rebecca Pinsky, Dimira Tambunan, Catherine Shain

Ann Neurol· March 2017

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Phenotypic and imaging features of FLNA-negative patients with bilateral periventricular nodular heterotopia and epilepsy.
Zianka Fallil, Heath Pardoe, Robert Bachman, Benjamin Cunningham, Isha Parulkar, Catherine Shain

Epilepsy Behav· October 2015

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Polymicrogyria-associated epilepsy: a multicenter phenotypic study from the Epilepsy Phenome/Genome Project.
Catherine Shain, Sriram Ramgopal, Zianka Fallil, Isha Parulkar, Richard Alongi

Epilepsia· August 2013

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