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Article

Association of a synonymous SCN1B variant affecting splicing efficiency with Benign Familial Infantile Epilepsy (BFIE).

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - 1 Sept 2017

Usluer Sunay, Kayserili Melek Aslı, Eken Aslı Gündoğdu, Yiş Uluc, Leu Costin, Altmüller Janine, Thiele Holger, Nürnberg Peter, Sander Thomas, Çağlayan S Hande

Abstract excerpt

Benign Familial Infantile Epilepsy (BFIE) is clinically characterized by clusters of brief partial seizures progressing to secondarily generalized seizures with onset at the age of 3-7 months and with favorable outcome. PRRT2 mutations are the most common cause of BFIE, and found in about 80% of BFIE families. In this study, we analyzed a large multiplex BFIE family by linkage and whole exome sequencing (WES)...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 28566192
DOI: 10.1016/j.ejpn.2017.05.001

Genes

PRRT2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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