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The Biallelic Inheritance of Two Novel SCN1A Variants Results in Developmental and Epileptic Encephalopathy Responsive to Levetiracetam

Giorgia Dinoi,Elena Conte,Orazio Palumbo,Mario Benvenuto,Maria Antonietta Coppola,Pietro Palumbo,Patrizia Lastella,Brigida Boccanegra,Ester Di Muro,Marco Castori,Massimo Carella,Vittorio Sciruicchio,Marina de Tommaso,Antonella Liantonio,Annamaria De Luca,Angela La Neve,Paola Imbrici

Biomedicines（2024）

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关键词
SCN1A,Nav1.1,epilepsy,patch-clamp,biallelic inheritance
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