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Publications by Rikke S. Møller

A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy

American Journal of Human Genetics

English

Correction To: The Landscape of Epilepsy-Related GATOR1 Variants

Genetics in Medicine

English

Clinical Spectrum of STX1B-related Epileptic Disorders

English

Delineating the GRIN1 Phenotypic Spectrum

English

Mild Malformations of Cortical Development in Sleep-Related Hypermotor Epilepsy Due to KCNT1 Mutations

Annals of Clinical and Translational Neurology

English

Precision Medicine: SCN8A Encephalopathy Treated With Sodium Channel Blockers

Neurotherapeutics

English

Pitfalls in Genetic Testing: The Story of missedSCN1Amutations

Molecular genetics & genomic medicine

Molecular Biology

English