{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Brunklaus A"],"funding":["NINDS NIH HHS"],"pagination":["e1163-e1174"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC8935441"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["98(11)"],"pubmed_abstract":["<h4>Background and objectives</h4>Pathogenic variants in the neuronal sodium channel α1 subunit gene (<i>SCN1A</i>) are the most frequent monogenic cause of epilepsy. Phenotypes comprise a wide clinical spectrum, including severe childhood epilepsy; Dravet syndrome, characterized by drug-resistant seizures, intellectual disability, and high mortality; and the milder genetic epilepsy with febrile seizures plus (GEFS+), characterized by normal cognition. Early recognition of a child's risk for developing Dravet syndrome vs GEFS+ is key for implementing disease-modifying therapies when available before cognitive impairment emerges. Our objective was to develop and validate a prediction model using clinical and genetic biomarkers for early diagnosis of <i>SCN1A</i>-related epilepsies.<h4>Metho"],"journal":["Neurology"],"pubmed_title":["Development and Validation of a Prediction Model for Early Diagnosis of <i>SCN1A</i>-Related Epilepsies."],"pmcid":["PMC8935441"],"funding_grant_id":["U54 NS108874"],"pubmed_authors":["Schneider AL","Symonds JD","Lal D","Regan BM","Xinge J","Kattan MW","Chemaly N","Zuberi SM","Brunklaus A","Perez-Palma E","Nabbout R","Brilstra E","de Lange I","Depienne C","Moller RS","Weckhuysen S","Mei D","Schoonjans AS","Ghanty I","Guerrini R","Scheffer IE","Ceulemans B"],"additional_accession":[]},"is_claimable":false,"name":"Development and Validation of a Prediction Model for Early Diagnosis of <i>SCN1A</i>-Related Epilepsies.","description":"<h4>Background and objectives</h4>Pathogenic variants in the neuronal sodium channel α1 subunit gene (<i>SCN1A</i>) are the most frequent monogenic cause of epilepsy. Phenotypes comprise a wide clinical spectrum, including severe childhood epilepsy; Dravet syndrome, characterized by drug-resistant seizures, intellectual disability, and high mortality; and the milder genetic epilepsy with febrile seizures plus (GEFS+), characterized by normal cognition. Early recognition of a child's risk for developing Dravet syndrome vs GEFS+ is key for implementing disease-modifying therapies when available before cognitive impairment emerges. Our objective was to develop and validate a prediction model using clinical and genetic biomarkers for early diagnosis of <i>SCN1A</i>-related epilepsies.<h4>Metho","dates":{"release":"2022-01-01T00:00:00Z","publication":"2022 Mar","modification":"2025-04-04T11:26:44.71Z","creation":"2024-11-19T16:59:54.491Z"},"accession":"S-EPMC8935441","cross_references":{"pubmed":["35074891"],"doi":["10.1212/WNL.0000000000200028","10.1212/wnl.0000000000200028"]}}