Burst-Suppression EEG in Early Infantile Developmental and Epileptic Encephalopathies: Phenotype, Genotype, and Outcome.
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Ошибки и ограничения
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Riccardi Florence, Desnous Béatrice, Borloz Emilie, Lepine Anne, Lacoste Caroline, Mignon-Ravix Cécile, Cacciagli Pierre, Missirian Chantal, Molinari Florence, Mortreux Jérémie, Afenjar Alexandra, Altuzarra Cécilia, Auvin Stéphane, Bar Claire, Barth Magalie, Biscaye Stéphanie, Bourel-Ponchel Emilie, Cabasson Sébastien, Cances Claude, Castelnau Pierre, Caubel Isabelle, Carneiro Maryline, Chabrol Brigitte, Chadie Alexandra, Chaussenot Annabelle, Cheuret Emmanuel, Chouchane Mondher, Cogné Benjamin, Colin Estelle, Demurger Florence, Desportes Vincent, Dieux-Coeslier Anne, Doummar Diane, Goizet Cyril, Goldenberg Alice, Ghoumid Jamal, Guerrot Anne-Marie, Herenger Yvan, Heron Delphine, Horvath Gabriella, Ilunga Serge, Isidor Bertrand, Jeanne Médéric, Julia Sophie, Kaminska Anna, Lagrue Emmanuelle, Lambert Laetitia, Lebre Anne-Sophie, Lefranc Jérémie, Lesca Gaëtan, Levrat Virginie, Mansour Hicham, Marey Isabelle, Marret Stéphane, Maurey Hélène, Metreau Julia, Mignot Cyril, Naudion Sophie, Neveu Julien, Patat Olivier, Pasquier Laurent, Perrier Julie Boeswillwald, Petit Florence, Poulat Anne-Lise, Quélin Chloé, Richelme Christian, Rollier Paul, Rondeau Stéphane, Roubertie Agathe, Schaefer Elise, De Saint-Martin Anne, Thauvin Christel, Torre Stéphanie, Toutain Annick, Van Coster Rudy, Ville Dorothée M, Villeneuve Nathalie, Villard Laurent, Milh Mathieu
Аннотация
METHODS: We retrospectively analyzed 110 patients with BS EEG enrolled from a database of 1,540 individuals with suspected genetic epilepsies (2008-2023). Clinical, EEG, and genetic data were systematically collected. Patients were stratified into 4 groups: KCNQ2, STXBP1, "other pathogenic variants," and "without a genetic diagnosis." EEG traces were reviewed independently, and outcomes were assessed through long-term follow-up.
RESULTS: Pathogenic or likely pathogenic variants were identified in 62.7% of patients and involved 23 genes, including 2 copy number variants. KCNQ2 (n = 24) and STXBP1 (n = 16) accounted for one-third of diagnoses, whereas SCN2A (n = 3) and KCNT1 (n = 2) were less frequent. In KCNQ2 cases, seizures and BS onset occurred earlier than in STXBP1 cases: mean 2 days vs 6 weeks for seizures and 3 days vs 2 months for BS, respectively. A typical BS pattern (bursts longer than suppressions) strongly correlated with KCNQ2 and STXBP1 variants. Novel associations were found with DPM1, GRIN2A, KCNT2, PIGO, PURA, WWOX, and candidate genes (KMT2E, SNAP25, and SYT1). Most variants were de novo heterozygous; however, recessive and X-linked inheritance patterns were also observed. Mortality was high (25%), primarily from status epilepticus and complications of severe disability. Most patients (72.5%) had persistent seizures at follow-up (a mean of 6.5 years), as well as profound intellectual disabilities, irrespective of genotype.
DISCUSSION: This large series highlights the strong monogenic basis of EIDEE-BS. KCNQ2, STXBP1, and SCN2A were the most commonly affected genes. Early EEG features, particularly BS timing and morphology, can help anticipate the underlying genotype and guide precision therapy, including the early use of sodium channel blockers in selected cases. These findings support recent ILAE reclassification efforts and underscore the importance of comprehensive genomic testing for improved diagnosis and counseling.