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.
© 2019 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.
MeSH terms
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Alleles*
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Amino Acid Substitution*
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Anticonvulsants / therapeutic use
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Child, Preschool
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Electroencephalography
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Epilepsy / diagnosis*
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Epilepsy / drug therapy
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Epilepsy / genetics*
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Exome Sequencing
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Fibroblast Growth Factors / genetics*
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Genetic Association Studies
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Genetic Predisposition to Disease
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Humans
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Magnetic Resonance Imaging
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Male
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Mutation*
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Phenobarbital / therapeutic use
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Phenytoin / therapeutic use
Substances
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Anticonvulsants
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FGF12 protein, human
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Phenytoin
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Fibroblast Growth Factors
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Phenobarbital