1.
Clin Genet
; 96(3): 274-275, 2019 09.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31292943
RESUMO
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.