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Publications by Samuel F. Berkovic

Optimizing Genomic Medicine in Epilepsy Through a Gene-Customized Approach to Missense Variant Interpretation

Genome Research

English

Mutations in Mammalian Target of Rapamycin regulatorDEPDC5cause Focal Epilepsy With Brain Malformations

Annals of Neurology

English

Rare Copy Number Variants Are an Important Cause of Epileptic Encephalopathies

Annals of Neurology

English

A Case-Control Collapsing Analysis Identifies Epilepsy Genes Implicated in Trio Sequencing Studies Focused on De Novo Mutations

Molecular Biology

Cancer Research

English

Does Variation in NIPA2 Contribute to Genetic Generalized Epilepsy?

English

In Silico Prioritization Based on Coexpression Can Aid Epileptic Encephalopathy Gene Discovery

Neurology: Genetics

English

Human GABRG2 Generalized Epilepsy

Neurology: Genetics

English

Epileptic Spasms Are a Feature ofDEPDC5mTORopathy

Neurology: Genetics

English

Somatic GNAQ Mutation in the Forme Fruste of Sturge-Weber Syndrome

Neurology: Genetics

English

Development of a Rapid Functional Assay That Predicts GLUT1 Disease Severity

Neurology: Genetics

English