Gain of function SCN1A disease-causing variants: Expanding the phenotypic spectrum and functional studies guiding the choice of effective antiseizure medication.

doi:10.1111/epi.17509

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Gain of function SCN1A disease-causing variants: Expanding the phenotypic spectrum and functional studies guiding the choice of effective antiseizure medication.

Epilepsia - 1 May 2023

Matricardi Sara, Cestèle Sandrine, Trivisano Marina, Kassabian Benedetta, Leroudier Nathalie, Vittorini Roberta, Nosadini Margherita, Cesaroni Elisabetta, Siliquini Sabrina, Marinaccio Cristina, Longaretti Francesca, Podestà Barbara, Operto Francesca Felicia, Luisi Concetta, Sartori Stefano, Boniver Clementina, Specchio Nicola, Vigevano Federico, Marini Carla, Mantegazza Massimo

Abstract excerpt

OBJECTIVE: This study was undertaken to refine the spectrum of SCN1A epileptic disorders other than Dravet syndrome (DS) and genetic epilepsy with febrile seizures plus (GEFS+) and optimize antiseizure management by correlating phenotype-genotype relationship and functional consequences of SCN1A variants in a cohort of patients. METHODS: Sixteen probands carrying SCN1A pathogenic variants were ascertained via a...

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PMID: 36636894
DOI: 10.1111/epi.17509

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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