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Article

Evaluation of the effect of c.2946+1G>T mutation on splicing in the SCN1A gene.

Computational biology and chemistry - 1 Feb 2015

Ben Mahmoud Afif, Ben Mansour Riadh, Driss Fatma, Baklouti-Gargouri Siwar, Siala Olfa, Mkaouar-Rebai Emna, Fakhfakh Faiza

Abstract excerpt

Mutations in the SCN1A gene have commonly been associated with a wide range of mild to severe epileptic syndromes. They generate a wide spectrum of phenotypes ranging from the relatively mild generalized epilepsy with febrile seizures plus (GEFS+) to other severe epileptic encephalopathies, including myoclonic epilepsy in infancy (SMEI), cryptogenic focal epilepsy (CFE), cryptogenic generalized epilepsy (CGE) and...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 25590135
DOI: 10.1016/j.compbiolchem.2015.01.003

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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