Ingrid E. Scheffer

MBBS, PhD Neurology

Epileptologist

42 Years Experience Overall

Female📍 Melbourne

About of Ingrid E. Scheffer

Ingrid E. Scheffer is an epileptologist based at Flemington Road, Melbourne, VIC. Her practice is at 50 Flemington Rd, Parkville VIC 3052. She focuses on epilepsy care for people with complex seizure conditions, including children and adults.

With 42 years of overall experience, Dr Scheffer has built a steady, long-term approach to epilepsy. Over time, this helps families and patients when seizures change, treatment needs adjusting, or a diagnosis is still unclear. Epilepsy can be hard to live with, so the work is often about finding the right plan and reviewing it carefully.

Many of her patients have seizure types linked to brain development and genetics. This can include hard-to-control epilepsy syndromes such as Lennox-Gastaut syndrome, Dravet syndrome, West syndrome, and autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE). She also helps with seizure disorders where medication may not fully control symptoms, or where there are other related developmental issues like speech and learning difficulties.

She may also look at conditions that affect how the brain forms, such as cortical dysplasia, periventricular heterotopia, and polymicrogyria. At times, people come in with seizure patterns that need careful sorting, including focal seizures, generalised tonic-clonic seizures, absence seizures, and myoclonic or atonic seizures. In some cases, there are links to early-life seizures, developmental delays, and sudden changes in function.

Dr Scheffer’s education includes an MBBS from Monash University (1983) and a PhD in Neurology from the University of Melbourne (1998). This training supports a deeper look at how epilepsy works in the brain, especially when the cause may be genetic or developmental.

Research and academic work run alongside clinical care. This can be especially relevant for rare and inherited forms of epilepsy, where new information and treatment directions are always emerging. Where appropriate, clinical trials may also be part of the bigger picture for some patients and families, depending on what is suitable and available.

Overall, the focus stays practical: make sense of seizure types, review past treatments, and work through next steps in a calm, organised way.

Education

MBBS (Monash, 1983)
PhD Neurology (University of Melbourne, 1998)

Services & Conditions Treated

Autosomal Dominant Nocturnal Frontal Lobe Epilepsy (ADNFLE)Cortical DysplasiaDravet SyndromeEpilepsyEpilepsy with Myoclonic-Atonic SeizuresGenetic Epilepsy with Febrile Seizures Plus (GEFS+)Lennox-Gastaut Syndrome (LGS)MosaicismMyoclonic EpilepsyPartial Familial EpilepsyPeriventricular HeterotopiaSeizuresSpasmus NutansWest SyndromeAbsence SeizureApraxiaBenign Familial Neonatal SeizuresBilateral Perisylvian PolymicrogyriaDysarthriaEarly Infantile Epileptic EncephalopathyEpilepsy in ChildrenEpilepsy Juvenile AbsenceGeneralized Tonic-Clonic SeizureHypothalamic HamartomasInfant Epilepsy with Migrant Focal CrisisJuvenile Myoclonic EpilepsyPhotosensitive EpilepsyPolymicrogyriaAchalasia Microcephaly SyndromeAgyria Pachygyria PolymicrogyriaAlternating Hemiplegia of ChildhoodAutism Spectrum DisorderBatten DiseaseBenign Rolandic EpilepsyCDKL5 Deficiency DisorderChromosome 6q DeletionCLN1 DiseaseCLN2 DiseaseCLN3 DiseaseCLN4 DiseaseCLN5 DiseaseDentatorubral-Pallidoluysian AtrophyDevelopmental Expressive Language DisorderDrug Induced DyskinesiaFamilial Paroxysmal Nonkinesigenic DyskinesiaFocal or Multifocal Malformations in Neuronal MigrationGlucose Transporter DeficiencyHemiplegiaHypotoniaIdiopathic EdemaLafora DiseaseLissencephalyLissencephaly 1MicrocephalyMiller-Dieker SyndromeMovement DisordersPalatal MyoclonusPolydactylyRett SyndromeStatus EpilepticusStereotypic Movement DisorderSubcortical Band HeterotopiaTuberous SclerosisTuberous Sclerosis ComplexAcute Cerebellar AtaxiaAicardi SyndromeAngelman SyndromeArthrogryposis Multiplex CongenitaAutosomal Dominant Partial Epilepsy with Auditory FeaturesBeta-Propeller Protein-Associated NeurodegenerationBrain HerniationCAPOS SyndromeCardiac ArrestChildhood PancreatitisChoreaCongenital ContracturesCongenital Generalized FibromatosisContinuous Spike-Wave During Slow Sleep SyndromeDelayed GrowthDevelopmental Dysphasia FamilialDiarrheaEncephaloceleFaintingFamilial DysautonomiaFamilial Hemiplegic MigraineFamilial PorencephalyFluFocal DystoniaFolate DeficiencyFOXG1 SyndromeFragile X SyndromeGangliogliomaGangliosidosisGigantismGM1 GangliosidosisHirsutism in WomenHypertensionHypothermiaKnobloch SyndromeLandau-Kleffner SyndromeLissencephaly 2Long QT SyndromeMicrocephaly Deafness SyndromeMigraine with Brainstem AuraMyoclonus-DystoniaMyotonic DystrophyMyotonic Dystrophy Type 2Orofaciodigital Syndrome 1OtitisPallister-Hall SyndromeParamyotonia CongenitaPontocerebellar HypoplasiaPorencephalyPost-Traumatic EpilepsySevere Acute Respiratory Syndrome (SARS)Sotos SyndromeSpastic Paraplegia Type 2Spastic Paraplegia Type 7SpasticitySpinocerebellar Degeneration and Corneal DystrophySturge-Weber SyndromeSudden Infant Death Syndrome (SIDS)

Publications

5 total

Epilepsia • February 04, 2025

Francesca Bisulli, Samuel Berkovic, Ingrid Scheffer, Edouard Hirsch, Lino Nobili, Federica Provini, Paolo Tinuper, Luca Vignatelli

The evolution from nocturnal paroxysmal dystonia (NPD) to sleep-related hypermotor epilepsy (SHE) is a complex and fascinating journey, marked by numerous twists and discoveries.1 This topic was recently reviewed by Fotedar and Luders,2 who erroneously concluded that SHE is not an identifiable focal epilepsy syndrome as they believed that it is based on weak evidence. We wish to address errors in their analysis and offer a more balanced understanding of this important form of epilepsy.

Understanding speech and language in KIF1A-associated neurological disorder

European Journal Of Human Genetics : EJHG • 2025

Lottie Morison, Adam Vogel, John Christodoulou, Wendy Gold, Dylan Verden, Wendy Chung, Ruth Braden, Joanna Bredebusch, Simranpreet Kaur, Ingrid Scheffer, Angela Morgan

KIF1A-associated neurological disorder (KAND) is a genetic condition characterised by motor, cognitive and ophthalmologic features. The speech and language phenotype have not been systematically analysed. Here, we assess speech and language using observer- and clinician-reported outcomes, and performance outcome measures. 44 individuals (25 female) with KAND (median age 7 years, range 1-60 years) participated. Median age at diagnosis was 4 years (range 0.5-58 years). KIF1A variants were missense (41/44 individuals, 93%), intragenic deletion (2/44, 5%) and splice site (1/44, 2%). Age at first words was delayed (>12 months) in 38/44 (86%) individuals. At assessment, 28/44 (64%) combined words into sentences and all of the 20 individuals assessed had dysarthria. Apraxic speech features and phonological impairments occurred in children aged under 8 years. 36/37 (97%) participants had language impairment, with expressive language skills stronger than receptive (p = 0.02) and written (p = 0.03) language on the Vineland Adaptive Behaviour Scales. 7/32 (22%) caregivers reported speech and language regression. Mild to severe intellectual disability occurred in 31/33 (94%) individuals. 22/44 (50%) participants had used augmentative and alternative communication, such as key word sign or speech generating devices. Individuals had average social motivation skills in contrast to moderately impaired social cognition, communication and awareness on the Social Responsiveness Scale (p < 0.05). 16/44 (36%) had epilepsy and 40/44 (91%) had visual impairment, namely nystagmus (16/44, 36%), optic nerve atrophy and strabismus (both 12/44, 27%). Individuals with KAND frequently have speech and language disorders necessitating early and targeted speech and language interventions.

Serial correlation between saliva and blood beta-hydroxybutyrate levels in children commencing the ketogenic diet for epilepsy.

Epilepsia • 2025

Neha Kaul, Jing Duan, Dong Cui, Michael Erlichster, Zhibin Chen, Dovile Anderson, Jianxiong Chan, Ingrid Scheffer, Efstratios Skafidas, Jianxiang Liao, Patrick Kwan

Objectives Accurate and user-friendly methods to measure beta-hydroxybutyrate (BHB) concentration are needed to guide the optimal use of ketogenic diet therapy (KDT). We aimed to determine the correlation between serum, capillary, and salivary BHB concentration, and to validate an electrochemical salivary BHB point-of-care test (POCT) in children commencing KDT for drug-resistant epilepsy. Methods This was a single center, prospective cohort study. Children <18 years with drug-resistant epilepsy electively admitted to Shenzhen Children's Hospital to initiate KDT between January 1, 2020 and June 30, 2021, were included. Over the 7-day admission, we collected paired saliva and capillary blood samples twice a day and serum blood samples on the first and last days of admission from each participant. Salivary BHB was measured using liquid chromatography mass spectrometry (LCMS) and the POCT. Primary outcome was the correlation between serum and salivary BHB concentration measured using LCMS. Secondary outcomes were the correlation between both the capillary blood and salivary BHB concentration, measured by LCMS, and the POCT device. Results Seventy-one serum and 334 capillary blood paired with salivary samples were collected from 42 children (median age 4.5 years, interquartile range 1 to 8 years, 45% female). Salivary BHB measured using LCMS strongly correlated with serum BHB (Spearman's ρ = 0.910) and capillary blood BHB concentrations (Spearman's ρ = 0.865). Salivary BHB concentration was 6% and 7% of serum and capillary blood BHB concentration, respectively. The POCT demonstrated excellent test–retest reliability when compared with LCMS (ICC(A,k) = 0.983, 95% confidence interval: 0.980–0.986). Salivary BHB concentration measured by the POCT showed good accuracy in predicting the capillary blood BHB concentration within the therapeutic range of 2–5 mM. Significance Salivary BHB concentration strongly correlates with both serum and capillary blood BHB concentration. The POCT accurately measures salivary BHB concentration and provides a simple, user-friendly method to guide the use of KDT for children with drug-resistant epilepsy.

SCN1A pathogenic variants do not have a distinctive blood-derived DNA methylation signature.

Epilepsia • 2024

Christy Laflamme, Karim Karimi, Cassandra Rastin, Edith Almanza Fuerte, Talia Allan, Sophie Russ Hall, Amy Schneider, Daniel Stobo, Gaetan Lesca, Joseph Symonds, Andreas Brunklaus, Lynette Sadleir, Ingrid Scheffer, Bekim Sadikovic, Heather Mefford

DNA methylation signatures (“episignatures”) can be used as biomarkers of genetic aberrations, clinical phenotypes, and environmental exposures in rare diseases. Episignatures are utilized in molecular diagnostics and can clarify variants of uncertain significance. A growing number of disease genes, including epilepsy genes, exhibit robust and reproducible episignatures. However, whether SCN1A, the most prominent epilepsy gene, has one or more episignatures has not yet been determined. We generated genome-wide DNA methylation data and performed episignature analysis on 64 individuals with Dravet syndrome due to pathogenic loss-of-function (LOF) variants in SCN1A and seven individuals with early infantile SCN1A developmental and epileptic encephalopathy due to pathogenic gain-of-function (GOF) variants in SCN1A, relative to a large reference database of controls and rare disease episignature-positive cohorts. We analyzed all samples with LOF variants together and performed separate analyses for missense, nonsense, and GOF variant cohorts. A reproducible blood-derived episignature was not evident in any of the cohorts using current analytical approaches and reference data.

Serial correlation between saliva and blood beta-hydroxybutyrate levels in children commencing the ketogenic diet for epilepsy.

Epilepsia • 2025

Neha Kaul, Jing Duan, Dong Cui, Michael Erlichster, Zhibin Chen, Dovile Anderson, Jianxiong Chan, Ingrid Scheffer, Efstratios Skafidas, Jianxiang Liao, Patrick Kwan

View all 5 publications

Clinical Trials

4 total

A Phase 3, Prospective, Open-Label, Multisite, Extension of Phase 3 Studies To Assess the Long-Term Safety and Tolerability of Soticlestat as Adjunctive Therapy in Subjects With Dravet Syndrome or Lennox-Gastaut Syndrome (ENDYMION 2)

Active_not_recruitingPhase 3Soticlestat

The main aim of the study is to learn if soticlestat, when given as an add-on therapy, reduces the number of seizures in children and adults with Dravet Syndrome (DS) or Lennox-Gastaut Syndrome (LGS). Participants will receive their standard anti-seizure therapy, plus tablets of soticlestat. There will be scheduled visits and follow-up phone calls throughout the study.

Participants: 400

A Multicenter, Randomized, Double-Blind, Placebo-Controlled, Parallel Group Study to Evaluate the Efficacy, Safety, and Tolerability of Soticlestat as Adjunctive Therapy in Pediatric and Young Adult Subjects With Dravet Syndrome (DS)

CompletedPhase 3Soticlestat

The main aim of the study is to learn if soticlestat, when given as an add-on therapy, reduces the number of convulsive seizures in children and young adults with DS. Participants will receive their standard antiseizure therapy, plus either a tablet of soticlestat or placebo for 16 weeks. A placebo looks just like soticlestat but will not have any medicine in it. Participants may continue treatment in an extension study, based on the extension study's entry criteria. Those that want to stop treatment will have a gradual dose reduction during 1 week and then be followed up for 2 weeks.

Participants: 144

A Multicenter, Randomized, Double-Blind, Placebo-Controlled, Parallel Group Study to Evaluate the Efficacy, Safety, and Tolerability of Soticlestat as Adjunctive Therapy in Pediatric and Adult Subjects With Lennox-Gastaut Syndrome (LGS)

CompletedPhase 3 Soticlestat

The aims of the study are: * to learn if soticlestat, when given as add-on therapy, reduces the number of major motor drop seizures in children, teenagers, and adults with Lennox-Gastaut Syndrome. * to assess the safety profile of soticlestat when given in combination with other therapies. Participants will receive their standard antiseizure therapy, plus either tablets of soticlestat or placebo. A placebo looks just like soticlestat but will not have any medicine in it. Participants will take soticlestat or placebo for 16 weeks, followed by a gradual dose reduction for 1 week. Then, participants will be followed up for 2 weeks.

Participants: 270

ANAVEX2-73-RS-003 is a Phase 2/3, Double-blind, Randomized, Placebo-controlled Safety and Efficacy Study in Pediatric Patients With RTT

CompletedPhase 2/Phase 3ANAVEX2-73

ANAVEX2-73-RS-003 is a Phase 2/3, double-blind, randomized, placebo-controlled dose escalation safety, tolerability and efficacy study in patients 5-17 years of age with RTT using endpoints including multiple clinical and exploratory molecular and biochemical measures

Participants: 92

View all 4 clinical trials

Frequently Asked Questions

What services does Dr Ingrid E. Scheffer offer?

Dr Scheffer is an epileptologist who focuses on a wide range of epilepsy-related conditions and genetic epilepsies, including ADNFLE, Dravet Syndrome, GEFS+, Lennox-Gastaut Syndrome, Myoclonic Epilepsy, and many others. She also covers epilepsy in children and adults and related movement and developmental concerns.

What conditions does Dr Scheffer treat?

She treats various epilepsy-related conditions, including focal and generalized epilepsies, genetic epilepsies, developmental epileptic encephalopathies, and related disorders such as West Syndrome and Lennox-Gastaut Syndrome, among many others listed in her service details.

Where is Dr Scheffer’s clinic located?

Her practice is at 50 Flemington Road, Parkville, VIC 3052, Australia, Melbourne.

How experienced is Dr Scheffer?

She has around 42 years of overall experience in neurology and epilepsy.

Who should consider seeing Dr Scheffer?

Patients with epilepsy or suspected genetic epilepsy syndromes, including complex or treatment-resistant cases, may benefit from her expertise as an epileptologist.

What should I expect when booking an appointment?

Booking would typically involve a consultation with assessment of the patient’s epilepsy history, seizure types, and any genetic considerations. For specifics on appointment times and availability, please contact the clinic directly.

Contact Information

Flemington Road, Melbourne, VIC, Australia

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