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Publications by Ingrid E. Scheffer

Bi-Allelic Loss-Of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia

American Journal of Human Genetics

English

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy With Contractures, Macrocephaly, and Dyskinesias

American Journal of Human Genetics

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

Homozygous PLCB1 Deletion Associated With Malignant Migrating Partial Seizures in Infancy

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