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FGF12p.Gly112Ser variant as a cause of phenytoin/phenobarbital responsive epilepsy.
Paprocka, Justyna; Jezela-Stanek, Aleksandra; Koppolu, Agniesz; Rydzanicz, Malgorzata; Kosinska, Joanna; Stawinski, Piotr; Ploski, Rafal.
Afiliação
  • Paprocka J; Department of Paediatric Neurology, School of Medicine in Katowice, Medical University of Silesia in Katowice, Katowice, Poland.
  • Jezela-Stanek A; Department of Genetics and Clinical Immunology, National Institute of Tuberculosis and Lung Diseases, Warsaw, Poland.
  • Koppolu A; Department of Medical Genetics, Warsaw Medical University, Warsaw, Poland.
  • Rydzanicz M; Postgraduate School of Molecular Medicine, Warsaw Medical University, Warsaw, Poland.
  • Kosinska J; Department of Medical Genetics, Warsaw Medical University, Warsaw, Poland.
  • Stawinski P; Department of Medical Genetics, Warsaw Medical University, Warsaw, Poland.
  • Ploski R; Department of Medical Genetics, Warsaw Medical University, Warsaw, Poland.
Clin Genet ; 96(3): 274-275, 2019 09.
Article em En | MEDLINE | ID: mdl-31292943
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.
Assuntos
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Substituição de Aminoácidos / Alelos / Epilepsia / Fatores de Crescimento de Fibroblastos / Mutação Tipo de estudo: Prognostic_studies Limite: Child, preschool / Humans / Male Idioma: En Ano de publicação: 2019 Tipo de documento: Article
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Substituição de Aminoácidos / Alelos / Epilepsia / Fatores de Crescimento de Fibroblastos / Mutação Tipo de estudo: Prognostic_studies Limite: Child, preschool / Humans / Male Idioma: En Ano de publicação: 2019 Tipo de documento: Article