{"doi":"10.1016/j.ebcr.2018.09.009","title":"Valproic acid as a monotherapy in drug-resistant methyl-CpG-binding protein 2 gene (MECP2) duplication-related epilepsy","abstract":null,"journal":"Epilepsy & Behavior Case Reports","year":2018,"id":631382,"datarank":0.26876392038420827,"base_score":1.791759469228055,"endowment":1.791759469228055,"self_citation_contribution":0.26876392038420827,"citation_network_contribution":0.0,"self_endowment_contribution":0.26876392038420827,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":5,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":null,"is_data_producer":false,"deposit_databanks":null,"is_oa":false,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":null,"fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":494156,"name":"Julie Richer","orcid":"0009-0009-3510-0697","position":1,"is_corresponding":false},{"id":1054583,"name":"Erick Sell","orcid":null,"position":2,"is_corresponding":false},{"id":1321624,"name":"Meghna Rajaprakash","orcid":"0000-0002-6217-0502","position":0,"is_corresponding":false}],"reference_count":0,"raw_metadata":{"has_enrichment":true,"resolved":true,"title":"Valproic acid as a monotherapy in drug-resistant methyl-CpG-binding protein 2 gene (MECP2) duplication-related epilepsy","abstract":"Duplication of the methyl-CpG-binding protein 2 gene (MECP2) is a rare condition that results in epilepsy in half of the cases. Although this condition has been well characterized in the literature, there is a lack of research on MECP2 duplication-related epilepsy and its management. We present the case of an eleven-year old male with MECP2 duplication and epilepsy, who was resistant to polytherapy. The patient responded well to valproic acid (VPA) initially and upon re-challenge. This case report provides evidence for the use of VPA as an initial monotherapy for treatment of drug-resistant MECP2 duplication-related epilepsy.","is_dataset_classified":null,"base_score":1.791759469228055,"endowment":1.791759469228055,"datacite_reuse_total":0,"file_count":0,"downloads":0,"views":0,"has_version_chain":false,"is_dataset":false,"is_oa":false,"pmid":"30425922","pmcid":"PMC6222037","openalex_id":"https://openalex.org/W2896788857","authors":[],"funders":[],"total_grants":0,"fwci":0.6411,"citation_percentile":0.73408797,"influential_citations":0,"citation_trend":[{"year":2018,"count":1},{"year":2020,"count":1},{"year":2021,"count":2},{"year":2022,"count":1}],"oa_status":"gold","license":"cc-by-nc-nd","oa_locations":[{"url":"https://www.sciencedirect.com/science/article/pii/S2213323218300987/pdf","host_type":"journal"},{"url":"https://www.sciencedirect.com/science/article/pii/S2213323218300987/pdf","host_type":"publisher"},{"url":"https://api.elsevier.com/content/article/PII:S2213323218300987?httpAccept=text/xml","host_type":"publisher"},{"url":"https://api.elsevier.com/content/article/PII:S2213323218300987?httpAccept=text/plain","host_type":"publisher"},{"url":"https://doi.org/10.1016/j.ebcr.2018.09.009","host_type":"journal"},{"url":"https://pubmed.ncbi.nlm.nih.gov/30425922","host_type":"repository"},{"url":"https://doaj.org/article/8dc19080e7b7426ba1b861fe2ef55d49","host_type":"repository"},{"url":"http://europepmc.org/pmc/articles/PMC6222037","host_type":"repository"},{"url":"https://www.ncbi.nlm.nih.gov/pmc/articles/6222037","host_type":"repository"},{"url":"https://europepmc.org/articles/PMC6222037","host_type":"Europe_PMC"},{"url":"https://europepmc.org/articles/PMC6222037?pdf=render","host_type":"Europe_PMC"}],"fields_of_study":["Genetics and Neurodevelopmental Disorders","Epilepsy research and treatment","Autism Spectrum Disorder Research"],"mesh_terms":[],"keywords":["MECP2","Gene duplication","Valproic Acid","Epilepsy","Gene","CpG site","Medicine","Bioinformatics","Pharmacology","Genetics","Biology","DNA methylation","Psychiatry","Gene expression","Phenotype","Drug Reactions","Generalized Seizures","X-linked Syndrome","Antiseizure Drugs"],"sdg_mappings":[{"sdg_number":0,"sdg_label":"Good health and well-being"}],"linked_datasets":[],"clinical_trials":[],"software_tools":[],"database_accessions":[],"source":"live","citation_network_status":"fetched"},"created_at":"2026-08-05T23:28:05.145007Z","pmid":null,"pmcid":null,"fwci":null,"citation_percentile":null,"influential_citations":0,"oa_status":null,"license":null,"views":0,"total_file_size_bytes":0,"version_count":0,"fair_f":null,"fair_a":null,"fair_i":null,"fair_r":null,"fair_zscore":null,"fair_rationale":null,"fair_model":null,"fair_agent_version":null,"fair_fulltext_source":null,"fair_has_llm":null,"fair_computed_at":null,"clinical_trials":[],"software_tools":[],"db_accessions":[],"linked_datasets":[],"topics":[]}