Article
Identification of a Novel Homozygous SCN1B Splice-Site Variant in a Consanguineous Families With Early-Onset Epilepsy: A Case Series and Review of Literature.
Molecular genetics & genomic medicine - 1 May 2026
Muhammad Anees, Ramzan Shafaq, Yousaf Hammad, Ghumman Rafia Zafar, Ali Farhan Bahadar, Khalily Muhammad Athar, Ali Asmat, Ali Wajid, Zia Salma, Khan Najeeb Ullah, Sarwar Muhammad Tahir, Toft Matias, Iqbal Zafar, Fatima Ambrin
Abstract excerpt
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 autosomal dominant as well as recessive inheritance models. The current study investigated the genetic basis of epilepsy in two...
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