Els De Vriendt

University of Antwerp — Belgium

Neuroscience · Life Sciences

28h-index4.0kcitations65works1.32yr avg
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Research Topics

Hereditary Neurological Disorders(42), Neurological diseases and metabolism(25), Genetic Neurodegenerative Diseases(12), RNA Research and Splicing(8), Neurogenetic and Muscular Disorders Research(7)

Publications65 total

Imaging brain development in a KCNQ2-developmental and epileptic encephalopathy mouse model: identifying early biomarkers for functional and structural brain changes
EBioMedicine·2025Open Access
Biallelic variants in <i>COX18</i> cause a mitochondrial disorder primarily manifesting as peripheral neuropathy
Brain·2025Open Access
KCNQ2 Loss-of-Function variants disrupt neuronal maturation via early hyperexcitability followed by maladaptive network remodeling
2025Open Access
Fibroblast transcriptomics uncovers pathogenic genomic variants in individuals with exome‐negative childhood onset epilepsy
Epilepsia·2025· 2 citedOpen Access
Imaging Brain Development in a KCNQ2-Developmental and Epileptic Encephalopathy Mouse Model: Identifying Early Biomarkers for Functional and Structural Brain Changes
SSRN Electronic Journal·2025Open Access
Identification and Characterization of Novel Founder Mutations in NDRG1: Refining the Genetic Landscape of Charcot–Marie–Tooth Disease Type 4D in Bulgaria
International Journal of Molecular Sciences·2024· 2 citedOpen Access
Biallelic variants in <i>COX18</i> cause a mitochondrial disorder primarily manifesting as peripheral neuropathy
2024· 3 citedOpen Access
Alternative splicing expands the clinical spectrum of NDUFS6-related mitochondrial disorders
Genetics in Medicine·2024· 3 citedOpen Access
Increased prime edit rates in KCNQ2 and SCN1A via single nicking all-in-one plasmids
BMC Biology·2023· 11 citedOpen Access
Additional file 2 of Increased prime edit rates in KCNQ2 and SCN1A via single nicking all-in-one plasmids
Figshare·2023Open Access
HINT1 neuropathy in Lithuania: clinical, genetic, and functional profiling
Orphanet Journal of Rare Diseases·2022· 2 citedOpen Access
Phenotypic and Genetic Heterogeneity of Adult Patients with Hereditary Spastic Paraplegia from Serbia
Cells·2022· 2 citedOpen Access
Efficient and accurate prime editing strategy to correct genetic alterations in hiPSC using single EF-1alpha driven all-in-one plasmids
2022· 2 citedOpen Access
<i>HINT1</i> founder mutation causing axonal neuropathy with neuromyotonia in South America: A case report
Molecular Genetics & Genomic Medicine·2021· 9 citedOpen Access
HINT1 neuropathy in Norway: clinical, genetic and functional profiling
Orphanet Journal of Rare Diseases·2021· 13 citedOpen Access
phenotypic and genetic heterogeneity of adult patients with hereditary spastic paraplegia from Serbia
Journal of the Neurological Sciences·2019
Kufor-Rakeb Syndrome/PARK9: One Novel and One Possible Recurring Ashkenazi ATP13A2 Mutation
Journal of Parkinson s Disease·2018· 13 citedOpen Access
Sphingosine 1-phosphate lyase deficiency causes Charcot-Marie-Tooth neuropathy
Neurology·2017· 70 citedOpen Access
Charcot–Marie–Tooth disease type 2G redefined by a novel mutation in <i>LRSAM1</i>
Annals of Neurology·2016· 14 citedOpen Access
<i>De novo PMP2</i>mutations in families with type 1 Charcot–Marie–Tooth disease
Brain·2016· 43 citedOpen Access
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Frequent Co-authors

Vincent Timmerman(31), Peter De Jonghe(30), Albena Jordanova(29), Christine Van Broeckhoven(12), Jonathan Baets(12), Eva Nelis(10), Michaela Auer‐Grumbach(9), Joy Irobi(9), An Jacobs(8), Veerle Van Gerwen(7), Koen Peeters(7), Ivailo Tournev(6), M. Zimoń(6), Velina Guergueltcheva(5), Leonardo Almeida‐Souza(5), Kristien Peeters(5), Stephan Züchner(5), Silvia Amor‐Barris(5), Nathalie Verpoorten(4), Pavel Seeman(4)