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    Novel nonsense mutation in gene CHRNA2 identified by whole-genome sequencing in infant with epilepsy disorder: A case report

    Novel nonsense mutation in gene CHRNA2 identified by whole-genome sequencing in infant with epilepsy disorder: A case report by Sultan Makhmetov, Kamila Temirkhanova, Saule Rakhimova, Nazerke Satvaldina, Ruslan Kalendar, Ulan Kozhamkulov, Aidos Bolatov, Mirgul Bayanova, Assiya Bazenova, Lyazzat Nazarova, Ainur Akilzhanova, Ulykbek Kairov

    Published 2025-01-01
    Subjects: “…Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE)…”
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