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Pathogenic significance of SCN1A splicing variants causing Dravet syndrome: Improving diagnosis with targeted sequencing for variants by in silico analysis.

Clinical neurology and neurosurgery - 1 Mar 2018

Mahdieh Nejat, Mikaeeli Sepideh, Badv Reza Shervin, Shirazi Azadeh Gharehzadeh, Maleki Majid, Rabbani Bahareh

Abstract excerpt

OBJECTIVES: Genetic heterogeneity of epileptic encephalopathy (IEE) mandates the use of gene-panels for diagnosis. PATIENTS AND METHODS: A 36-gene-panel next-generation sequencing was applied for IEE in two Iranian families. A literature search was performed using keywords to identify reported splicing mutations in SCN1A and perform genotype-phenotype correlation. RESULTS: An update of splicing mutations revealed...

Topics

Child
Computer Simulation
Epilepsies, Myoclonic
Female
Genetic Variation
Humans
Mutation
NAV1.1 Voltage-Gated Sodium Channel
Protein Isoforms
Sequence Analysis, Protein

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PMID: 29408779
DOI: 10.1016/j.clineuro.2018.01.030

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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