Ingrid Scheffer at The University of Melbourne - Research Interests, Publications & Academic Profile

Ingrid Scheffer

University of Melbourne

Australia

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Research Interests

Neurology

100%

Neuropsychology

50%

Neurodevelopmental Disorders

60%

Medical Science

50%

Epileptology

50%

Genetic

40%

Ataxia

30%

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Recent Grants

Grant: Close

PERSYST: Pathogenic Evaluation of Recalcitrant Variants by Systematic Transactivation

Open Date: 2022-02-01

Close Date: 2026-03-01

Grant: Open

"Integrative-omics" for precision medicine in the epilepsies

Open Date: 2022-01-01

Close Date: 2026-12-01

Grant: Close

Using Cerebrospinal Fluid Liquid Biopsy for Detection of Mosaic Brain Mutations

Open Date: 2022-01-01

Close Date: 2024-01-01

Grant: Close

Einstein Visiting Fellowship

Open Date: 2022-01-01

Close Date: 2025-01-01

Grant: Open

Translational Centre for Speech Disorders

Open Date: 2022-01-01

Close Date: 2027-01-01

Articles20

Inherited PURA Pathogenic Variant Associated With a Mild Neurodevelopmental Disorder

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2024

Author Correction: Developmental and epileptic encephalopathies

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2024

Developmental and epileptic encephalopathies

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2024

Inflation of polygenic risk scores caused by sample overlap and relatedness: Examples of a major risk of bias.

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2024

RNA variant assessment using transactivation and transdifferentiation.

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2024

Diagnostic utility of DNA methylation analysis in genetically unsolved pediatric epilepsies and CHD2 episignature refinement.

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2024

Experience of the first adult-focussed undiagnosed disease program in Australia (AHA-UDP): solving rare and puzzling genetic disorders is ageless

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2024

SCN8A self‐limited infantile epilepsy: Does epilepsy resolve?

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2024

Practical considerations for the use of fenfluramine to manage patients with Dravet syndrome or Lennox–Gastaut syndrome in clinical practice

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2024

Endophenotyping social cognition in the broader autism phenotype

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2024

Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals

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2023

Familial mesial temporal lobe epilepsy: clinical spectrum and genetic evidence for a polygenic architecture.

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2023

BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients.

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2023

Indications and prescribing patterns of antiseizure medications in children in New Zealand

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2023

Recognition and epileptology of protracted CLN3 disease

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2023

Expanding genotype-phenotype correlations in FOXG1 syndrome: results from a patient registry

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2023

Contribution of Somatic Ras/Raf/Mitogen-Activated Protein Kinase Variants in the Hippocampus in Drug-Resistant Mesial Temporal Lobe Epilepsy

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2023

Differential diagnosis of familial adult myoclonic epilepsy

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2023

Long-read sequencing and profiling of RNA-binding proteins reveals the pathogenic mechanism of aberrant splicing of an SCN1A poison exon in epilepsy.

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Year:

2023

Cation leak: a common functional defect causing HCN1 developmental and epileptic encephalopathy

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Year:

2023

Collaborators19

Sarah Weckhuysen

Associate Professor

University of Antwerp

BELGIUM

Paul Kuentz

Professeur des Universités-Praticien Hospitalier

Centre Hospitalier Universitaire Vaudois

FRANCE

Gianpiero Cavalleri

Professor of Human Genetics

IRELAND

Rebekah V Harris

University of Melbourne

AUSTRALIA

Yue Huang

Assistant Professor

Harvard Medical School

UNITED STATES

Ryan Lister

University of Western Australia

AUSTRALIA

Ngaire Keenan

University of Otago

NEW ZEALAND

Lynette Sadleir

University of Otago

NEW ZEALAND

Michael Hildebrand

A/Professor

University of Melbourne

AUSTRALIA

Himanshu Goel

University of Newcastle Australia

AUSTRALIA

Toshimitsu Suzuki

Lecturer

Nagoya University

JAPAN

Helen Cross

University College London

UNITED KINGDOM

Christian Pflueger

University of Western Australia

AUSTRALIA

Kazuhiro Yamakawa

Professor

Nagoya University

JAPAN

Samuel Berkovic

University of Melbourne

AUSTRALIA

Piero Perucca

AUSTRALIA

Angelo Labate

Full Professor of Neurology

University of Messina

ITALY

Saul Mullen

University of Melbourne

AUSTRALIA

Christopher Reid

University of Melbourne

AUSTRALIA

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