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Identification of a Novel Homozygous SCN1B Splice‐Site Variant in a Consanguineous Families With Early‐Onset Epilepsy: A Case Series and Review of Literature

ABSTRACT Background Pathogenic variants in SCN1B, the gene encoding the sodium channel β1 subunit, are associated with generalized epilepsy with febrile seizures plus (GEFS+) and related epilepsy disorders. These disorders exhibit phenotypic heterogeneity and varying clinical severity under autosoma...

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Main Authors: Anees Muhammad, Shafaq Ramzan, Hammad Yousaf, Rafia Zafar Ghumman, Farhan Bahadar Ali, Muhammad Athar Khalily, Asmat Ali, Wajid Ali, Salma Zia, Najeeb Ullah Khan, Muhammad Tahir Sarwar, Matias Toft, Zafar Iqbal, Ambrin Fatima
Format: Artigo
Language:Inglês
Published: Wiley 2026-05-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
consanguinity
Dravet syndrome
epilepsy
epileptic encephalopathy
homozygous
SCN1B
Online Access:https://doi.org/10.1002/mgg3.70214
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