SCN1A gene sequencing in 46 Turkish epilepsy patients disclosed 12 novel mutations
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چکیده
منابع مشابه
SCN1A gene sequencing in 46 Turkish epilepsy patients disclosed 12 novel mutations
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 a...
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ژورنال
عنوان ژورنال: Seizure
سال: 2016
ISSN: 1059-1311
DOI: 10.1016/j.seizure.2016.05.008