Ingrid E Scheffer
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Explore the profile of Ingrid E Scheffer including associated specialties, affiliations and a list of published articles.
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Recent Articles
1.
Rong M, Marques P, Ali Q, Morcos R, Chandran I, Qaiser F, et al.
Epilepsia
. 2025 Mar;
PMID: 40085430
Objective: Dravet syndrome (DS) is a developmental and epileptic encephalopathy. Diagnosis is clinical, but ~90% of patients have pathogenic variants in SCN1A. ATP6V0C has recently been proposed as a novel...
2.
Bisulli F, Berkovic S, Scheffer I, Hirsch E, Nobili L, Provini F, et al.
Epilepsia
. 2025 Mar;
PMID: 40085429
No abstract available.
3.
Scheffer I, Nabbout R, Lagae L, Devinsky O, Auvin S, Thiele E, et al.
Epilepsia
. 2025 Mar;
PMID: 40072476
Objective: We analyzed the long-term safety and effectiveness of fenfluramine (FFA) in patients with Dravet syndrome (DS) in an open-label extension (OLE) study after participating in randomized controlled trials (RCTs)...
4.
Howell K, White S, McTague A, DGama A, Costain G, Poduri A, et al.
NPJ Genom Med
. 2025 Feb;
10(1):13.
PMID: 40016282
Advances in genomic technologies have revolutionized the diagnosis of rare genetic diseases, leading to the emergence of precision therapies. However, there remains significant effort ahead to ensure the promise of...
5.
Scheffer I, French J, Valente K, Auvin S, Cross J, Specchio N
Epilepsia
. 2025 Feb;
PMID: 40013914
Developmental and epileptic encephalopathies (DEEs) are the most severe group of epilepsies, characterized by drug-resistant seizures and developmental slowing or regression. DEEs encompass many epilepsy syndromes, although not all patients...
6.
Rayner G, Honybun E, Bahlo M, Oliver K, Scheffer I
Ann Neurol
. 2025 Feb;
PMID: 39950246
Objectives: We analyzed the genotypic and phenotypic features of patients with psychosis of epilepsy (POE). Methods: Patients with POE recruited to an epilepsy genetics research program underwent phenotyping and genetic...
7.
LaFlamme C, Karimi K, Rastin C, Almanza Fuerte E, Allan T, Russ-Hall S, et al.
Epilepsia
. 2025 Feb;
PMID: 39932319
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...
8.
Kelada L, Best S, Pierce K, Allen M, Cobb J, Berens K, et al.
Eur J Paediatr Neurol
. 2025 Feb;
54:147-158.
PMID: 39919518
Introduction: Patients with developmental and epileptic encephalopathies (DEEs) have multiple comorbidities and high healthcare needs. Whether health services meet the needs of this patient population and their families is not...
9.
Morison L, Whiteman I, Vogel A, Tilbrook L, Fahey M, Braden R, et al.
J Inherit Metab Dis
. 2025 Jan;
48(1):e12838.
PMID: 39821609
CLN2 and CLN3 diseases, the most common types of Batten disease (also known as neuronal ceroid lipofuscinosis), are childhood dementias associated with progressive loss of speech, language and feeding skills....
10.
Green T, Bennett M, Immisch I, Freeman J, Klein K, Kerrigan J, et al.
Genet Med Open
. 2024 Dec;
1(1):100810.
PMID: 39669239
Purpose: Hypothalamic hamartoma (HH) can be syndromic (eg, Pallister-Hall syndrome [PHS], HH, and mesoaxial polydactyly) or nonsyndromic. Most PHS cases have germline variants in , but a minority remain unresolved....