Published January 1, 2016
| Version v1
Journal article
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SCN1A gene sequencing in 46 Turkish epilepsy patients disclosed 12 novel mutations
Creators
- 1. Bogazici Univ, Dept Mol Biol & Genet, Istanbul, Turkey
- 2. Gulhane Mil Med Acad, Dept Child Neurol, Ankara, Turkey
- 3. Dokuz Eylul Univ, Sch Med, Div Child Neurol, Dept Pediat, Izmir, Turkey
- 4. Kocaeli Univ, Fac Med, Dept Pediat, Kocaeli, Turkey
- 5. Gulhane Mil Med Acad, Dept Child Neurol, Istanbul, Turkey
- 6. Marmara Univ, Fac Med, Dept Child Neurol, Istanbul, Turkey
Description
Purpose: The SCN1A gene is one of the most commonly mutated human epilepsy genes associated with a spectrum of phenotypes with variable degrees of severity. Despite over 1200 distinct mutations reported, it is still hard to draw clear genotype phenotype relationships, since genetic and environmental modifiers contribute to the development of a particular disease caused by an SCN1A mutation. We aimed to initiate mutational screening of the SCN1A gene in Turkey and advance further our understanding of the relationship between the SCN1A sequence alterations and disease phenotypes such as GEFS+, DS and related epileptic encephalopathies.
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