Stephanie Schorge
Overview
Explore the profile of Stephanie Schorge including associated specialties, affiliations and a list of published articles.
Author names and details appear as published. Due to indexing inconsistencies, multiple individuals may share a name, and a single author may have variations. MedLuna displays this data as publicly available, without modification or verification
Snapshot
Snapshot
Articles
68
Citations
1687
Followers
0
Related Specialties
Related Specialties
Top 10 Co-Authors
Top 10 Co-Authors
Published In
Published In
Affiliations
Affiliations
Soon will be listed here.
Recent Articles
1.
Chang B, Walker M, Kullmann D, Schorge S
Epilepsia
. 2024 Nov;
66(1):288-302.
PMID: 39526997
Objective: Epilepsy involves significant changes in neural cells during epileptogenesis. Although the molecular mechanism of epileptogenesis remains obscure, changes in gene regulation play a crucial role in the evolution of...
2.
Almacellas Barbanoj A, Graham R, Maffei B, Carpenter J, Leite M, Hoke J, et al.
Brain
. 2023 Dec;
147(2):542-553.
PMID: 38100333
Focal cortical dysplasias are a common subtype of malformation of cortical development, which frequently presents with a spectrum of cognitive and behavioural abnormalities as well as pharmacoresistant epilepsy. Focal cortical...
3.
Qiu Y, ONeill N, Maffei B, Zourray C, Almacellas-Barbanoj A, Carpenter J, et al.
Science
. 2022 Nov;
378(6619):523-532.
PMID: 36378958
Several neurodevelopmental and neuropsychiatric disorders are characterized by intermittent episodes of pathological activity. Although genetic therapies offer the ability to modulate neuronal excitability, a limiting factor is that they do...
4.
Rybarikova M, Almacellas-Barbanoj A, Schorge S, Deglon N
Hum Gene Ther
. 2022 Sep;
33(17-18):913-922.
PMID: 36070435
The recent success of first central nervous system gene therapies has reinvigorated the growing community of gene therapy researchers and strengthened the field's market position. We are witnessing an increase...
5.
Brunger T, Perez-Palma E, Montanucci L, Nothnagel M, Moller R, Schorge S, et al.
Brain
. 2022 Aug;
146(3):923-934.
PMID: 36036558
Clinically identified genetic variants in ion channels can be benign or cause disease by increasing or decreasing the protein function. As a consequence, therapeutic decision-making is challenging without molecular testing...
6.
Morris G, Schorge S
Neuroscience
. 2022 Mar;
490:309-314.
PMID: 35304290
Gene therapy for rare monogenetic neurological disorders is reaching clinics and offering hope to families affected by these diseases. There is also potential for gene therapy to offer new and...
7.
Morris G, Heiland M, Lamottke K, Guan H, Hill T, Zhou Y, et al.
Front Neurol
. 2022 Jan;
12:791608.
PMID: 35069421
Drug-resistant epilepsy remains a significant clinical and societal burden, with one third of people with epilepsy continuing to experience seizures despite the availability of around 30 anti-seizure drugs (ASDs). Further,...
8.
Brunklaus A, Feng T, Brunger T, Perez-Palma E, Heyne H, Matthews E, et al.
Brain
. 2022 Jan;
145(12):4275-4286.
PMID: 35037686
Pathogenic variants in the voltage-gated sodium channel gene family lead to early onset epilepsies, neurodevelopmental disorders, skeletal muscle channelopathies, peripheral neuropathies and cardiac arrhythmias. Disease-associated variants have diverse functional effects...
9.
Clayton E, Bonnycastle K, Isaacs A, Cousin M, Schorge S
J Neurochem
. 2021 Dec;
160(3):412-425.
PMID: 34855215
Mutations in the ESCRT-III subunit CHMP2B cause frontotemporal dementia (FTD) and lead to impaired endolysosomal trafficking and lysosomal storage pathology in neurons. We investigated the effect of mutant CHMP2B on...
10.
Suetterlin K, Matthews E, Sud R, McCall S, Fialho D, Burge J, et al.
Brain
. 2021 Sep;
145(2):607-620.
PMID: 34529042
High-throughput DNA sequencing is increasingly employed to diagnose single gene neurological and neuromuscular disorders. Large volumes of data present new challenges in data interpretation and its useful translation into clinical...