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- Title
FGF12p.Gly112Ser variant as a cause of phenytoin/phenobarbital responsive epilepsy.
- Authors
Paprocka, Justyna; Jezela‐Stanek, Aleksandra; Koppolu, Agniesz; Rydzanicz, Małgorzata; Kosińska, Joanna; Stawiński, Piotr; Płoski, Rafał
- Abstract
A patient harboring a novel p.Gly112Ser variant in I FGF12 i gene had a positive response to phenytoin/phenobarbital treatment. Apart from a single patient with gene duplication[1] all 11 reported cases shared the same I FGF12 i variant (p.Arg114His/c.341G > A) and responded to phenytoin (PHT) and/or phenobarbital (PB).[[2]] Among reported patients with I FGF12 i mutation good response to PHT was observed in three cases, to PB in two.[[2]] Apart from our proband only one patient without seizures received PHT/PB combined therapy.
- Subjects
NEUROCYSTICERCOSIS; EPILEPSY; FIBROBLAST growth factors; MYOCLONUS; VAGUS nerve; ROTAVIRUS diseases
- Publication
Clinical Genetics, 2019, Vol 96, Issue 3, p274
- ISSN
0009-9163
- Publication type
Article
- DOI
10.1111/cge.13592