PEREZ PALMA, EDUARDO ESTEBAN
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PEREZ PALMA, EDUARDO ESTEBAN
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eduardoperez@udd.cl
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Scopus Author ID
55981322300

Research Output

2024 2024 2023 2023 2022 2022 2021 2021 0 0 2 2 4 4 6 6 8 8 10 10 12 12

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Dataset - Identification and quantification of oligogenic loss-of-function disorders

2021 , PEREZ PALMA, EDUARDO ESTEBAN

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Structural mapping of GABRB3 variants reveals genotype–phenotype correlations

2022 , Katrine M. Johannesen , Sumaiya Iqbal , Milena Guazzi , Nazanin A. Mohammadi , PEREZ PALMA, EDUARDO ESTEBAN , Elise Schaefer , Anne De Saint Martin , Marie Therese Abiwarde , Amy McTague , Roser Pons , Amelie Piton , Manju A. Kurian , Gautam Ambegaonkar , Helen Firth , Alba Sanchis-Juan , Marie Deprez , Katrien Jansen , Liesbeth De Waele , Eva H. Briltra , Nienke E. Verbeek , Marjan van Kempen , Walid Fazeli , Pasquale Striano , Federico Zara , Gerhard Visser , Hilde M.H. Braakman , Martin Haeusler , Miriam Elbracht , Ulvi Vaher , Thomas Smol , Johannes R. Lemke , Konrad Platzer , Joanna Kennedy , Karl Martin Klein , Ping Yee Billie Au , Kimberly Smyth , Julie Kaplan , Morgan Thomas , Malin K. Dewenter , Argirios Dinopoulos , Arthur J. Campbell , Dennis Lal , Damien Lederer , Vivian W.Y. Liao , Philip K. Ahring , Rikke S. Møller , Elena Gardella

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Copy Number Variation Analysis from SNP Genotyping Microarrays in Large Cohorts of Neurological Disorders

2022 , PEREZ PALMA, EDUARDO ESTEBAN , Lisa-Marie Niestroj , Miguel Inca-Martínez , Camilo Villaman , Dennis Lal , Ignacio Mata

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Dataset - Gene variant effects across sodium channelopathies predict function and guide precision therapy

2022 , PEREZ PALMA, EDUARDO ESTEBAN

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Gain-of-function SCN1A variants cause spectrum of early onset epileptic encephalopathies that respond to sodium channel blocking therapies

2022 , PEREZ PALMA, EDUARDO ESTEBAN

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Genomic analysis of AlphaFold2-predicted structures identifies maps of 3D essential sites in 243 neurodevelopmental disorder-associated proteins

2022 , Sumaiya Iqbal , Tobias Brünger , PEREZ PALMA, EDUARDO ESTEBAN , David Hoksza , Arthur J. Campbell , Mark J. Daly , Patrick May , Dennis Lal

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Molecular dynamics simulations reveal molecular mechanisms for the gain and loss of function effects of four SCN2A variants

2024 , PEREZ PALMA, EDUARDO ESTEBAN , Nisha Bhattarai , Ludovica Montanucci , Bruenger, Tobias , Martin, William , Smith, Iris N. , Cheng, Feixiong , Charis Eng , Helbig, Ingo , Moller, Rikkie S , Andreas Brunklaus , Stephanie Schorge , Dennis Lal

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Genomic analysis in Chilean pediatric patients with drug-resistant epilepsy

2023 , REPETTO LISBOA, MARIA GABRIELA , PEREZ PALMA, EDUARDO ESTEBAN , Venegas, V. , Villaman, C. , Zakharova, A. , Berrios, D. , Lagos, C. , Cavada, G. , Carrasco, X. , Manriquez, M. , Buron, V.

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Comparison of variant effects in SCN-gene paralogs predict function across sodium channelopathies

2022 , PEREZ PALMA, EDUARDO ESTEBAN

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Dataset - Conserved patterns across ion channels correlate with variant pathogenicity and clinical phenotypes

2022 , PEREZ PALMA, EDUARDO ESTEBAN

Clinically identified genetic variants in ion channels can be benign or cause disease by increasing or decreasing the protein function. Consequently, therapeutic decision-making is challenging without molecular testing of each variant. Our biophysical knowledge of ion channel structures and function is just emerging, and it is currently not well understood which amino acid residues cause disease when mutated. We sought to systematically identify biological properties associated with variant pathogenicity across all major voltage and ligand-gated ion channel families. We collected and curated 3,049 pathogenic variants from hundreds of neurodevelopmental and other disorders and 12,546 population variants for 30 ion channel or channel subunits for which a high-quality protein structure was available. Using a wide range of bioinformatics approaches, we computed 163 structural features and tested them for pathogenic variant enrichment. We developed a novel 3D spatial distance scoring approach that enables comparisons of pathogenic and population variant distribution across protein structures.

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