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FGF12p.Gly112Ser variant as a cause of phenytoin/phenobarbital responsive epilepsy
Justyna Paprocka1, Aleksandra Jezela-Stanek2, Agniesz Koppolu3,4
1Department of Paediatric Neurology, School of Medicine in Katowice, Medical University of Silesia in Katowice, Katowice, Poland.
Abstract:
A patient harboring a novel p.Gly112Ser variant in FGF12 gene had a positive response to phenytoin/phenobarbital treatment. All the 11 previously reported FGF12-associated epilepsy cases had a single neighboring p.(Arg114His) variant and presented similar phenotype.
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