Brigid M. Regan

Melbourne, VIC, Australia

Last Updated: 09/26/2026

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Found 26 publications

Solving the Etiology of Developmental and Epileptic Encephalopathy with Spike-Wave Activation in Sleep (D/EE-SWAS).

Solving the Etiology of Developmental and Epileptic Encephalopathy with Spike-Wave Activation in Sleep (D/EE-SWAS).

Journal: Annals of neurology

Published: February 23, 2024

Genotype-phenotype associations in 1018 individuals with SCN1A-related epilepsies.

Genotype-phenotype associations in 1018 individuals with SCN1A-related epilepsies.

Journal: Epilepsia

Published: September 17, 2023

Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes.

Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes.

Journal: medRxiv : the preprint server for health sciences

Published: March 03, 2023

The diverse pleiotropic effects of spliceosomal protein PUF60: A case series of Verheij syndrome.

The diverse pleiotropic effects of spliceosomal protein PUF60: A case series of Verheij syndrome.

Journal: American journal of medical genetics. Part A

Published: February 20, 2022

Development and Validation of a Prediction Model for Early Diagnosis of SCN1A-Related Epilepsies.

Development and Validation of a Prediction Model for Early Diagnosis of SCN1A-Related Epilepsies.

Journal: Neurology

Published: June 22, 2021

Association of SLC32A1 Missense Variants With Genetic Epilepsy With Febrile Seizures Plus.

Association of SLC32A1 Missense Variants With Genetic Epilepsy With Febrile Seizures Plus.

Journal: Neurology

Published: September 08, 2020

Integrated in silico and experimental assessment of disease relevance of PCDH19 missense variants.

Integrated in silico and experimental assessment of disease relevance of PCDH19 missense variants.

Journal: Human mutation

Published: October 11, 2019

Familial adult myoclonic epilepsy type 1 SAMD12 TTTCA repeat expansion arose 17,000 years ago and is present in Sri Lankan and Indian families.

Familial adult myoclonic epilepsy type 1 SAMD12 TTTCA repeat expansion arose 17,000 years ago and is present in Sri Lankan and Indian families.

Journal: European journal of human genetics : EJHG

Published: August 29, 2019

Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2.

Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2.

Journal: Nature communications

Published: March 19, 2019

Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders.

Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders.

Journal: Nature communications

Published: November 16, 2018

SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.

SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.

Journal: Human mutation

Published: October 30, 2018

Aberrant Inclusion of a Poison Exon Causes Dravet Syndrome and Related SCN1A-Associated Genetic Epilepsies.

Aberrant Inclusion of a Poison Exon Causes Dravet Syndrome and Related SCN1A-Associated Genetic Epilepsies.

Journal: American journal of human genetics

Published: August 09, 2018

Showing 1-12 of 26

Last Updated: 09/26/2026