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We divided our patients into groups for comparison purposes: patients with missense variants and nonsense variants, patients who are seizure-free and not seizure-free, patients with mild to moderate intellectual disability (ID) and severe to profound global developmental delay (GDD).<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Results<\/jats:title>\n                <jats:p>Nineteen patients were enrolled: 17 (89.5%) unrelated and 2 (10.5%) familial. Twelve (63.2%) were females. Developmental epileptic encephalopathy (DEE) was observed in 18 (94.7%) patients and ID alone in 1 (5.3%) individual. Thirteen patients (68.4%) had profound ID\/GDD, 4 (23.53%) severe, 1 (5.9%) moderate and 1 (5.9%) mild. Three patients (15.8%) with profound ID died. A total of 19 variants were detected: pathogenic (n\u2009=\u200915) and likely pathogenic (n\u2009=\u20094). Seven were novel variants: c.664-1G&gt;-, M486R, H245N, H498Pfs*44, L41R, L410del, and D90H. Of the 8 previous reported variants, 2 were recurrent: R406C and R292C. Anti-seizure medications were used in combinations, and 7 patients became seizure-free, and most of them achieved seizure freedom within the first 2 years of life irrespective of the type of the mutation. Effective medications for the seizure-free individuals included adrenocorticotropic (ACTH) and\/or levetiracetam and\/or phenobarbital and\/or sodium valproate and\/or topiramate and\/or vigabatrin and\/or nitrazepam. There was no correlation between the types of pathogenic variants and the phenotypes.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusion<\/jats:title>\n                <jats:p>Our case-series showed that there is no genotype-phenotype correlation in patients with <jats:italic>STXBP1<\/jats:italic>-related disorders. This study adds 7 novel variants which expand the spectrum of <jats:italic>STXBP1<\/jats:italic>-related disorders. Combinations of levetiracetam and\/or sodium valproate and\/or ACTH and\/or phenobarbital and\/or vigabatrin and\/or topiramate and\/or nitrazepam were more often associated with seizure freedom in our cohort within 2 years of life.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1186\/s12920-023-01474-2","type":"journal-article","created":{"date-parts":[[2023,3,7]],"date-time":"2023-03-07T11:03:32Z","timestamp":1678187012000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["Genotype-phenotype correlations of STXBP1 pathogenic variants and the treatment choices for STXBP1-related disorders in China"],"prefix":"10.1186","volume":"16","author":[{"given":"Miriam","family":"Kessi","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Baiyu","family":"Chen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Li-Dan","family":"Shan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ying","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lifen","family":"Yang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fei","family":"Yin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fang","family":"He","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jing","family":"Peng","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guoli","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2023,3,7]]},"reference":[{"key":"1474_CR1","doi-asserted-by":"publisher","first-page":"373","DOI":"10.1006\/geno.1997.5202","volume":"48","author":"DA Swanson","year":"1998","unstructured":"Swanson DA, Steel JM, Valle D. 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Written consents were obtained from the parents\/guardians of the subjects which were approved by the Institutional Ethics Committee of Xiangya Hospital, Central South University.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Written informed consents for publication of clinical details and clinical images were obtained from participants or the parents of the participants under the age of 16.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"None of the authors has any conflict of interest to disclose. The manuscript has been read and approved by all the authors, the requirements for authorship as stated in the journal guideline have been met, and each author believes that the manuscript represents honest work.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"46"}}