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FGF12 copy number variant associated with epileptic encephalopathy.
Abraham, Anna; Ramsey, Keri; Belnap, Newell; Szelinger, Szabolcs; Jepsen, Wayne; Balak, Chris; Sanchez-Castillo, Meredith; Naymik, Marcus; Bonfitto, Anna; Rangasamy, Sampathkumar; Kruglyak, Semyon; Huentelman, Matthew; Narayanan, Vinodh.
Afiliação
  • Abraham A; Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, Arizona, USA.
  • Ramsey K; Neurogenomics Division, Translational Genomics Research Institute, Phoenix, Arizona, USA.
  • Belnap N; Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, Arizona, USA.
  • Szelinger S; Neurogenomics Division, Translational Genomics Research Institute, Phoenix, Arizona, USA.
  • Jepsen W; Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, Arizona, USA.
  • Balak C; Neurogenomics Division, Translational Genomics Research Institute, Phoenix, Arizona, USA.
  • Sanchez-Castillo M; Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, Arizona, USA.
  • Naymik M; Neurogenomics Division, Translational Genomics Research Institute, Phoenix, Arizona, USA.
  • Bonfitto A; Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, Arizona, USA.
  • Rangasamy S; Neurogenomics Division, Translational Genomics Research Institute, Phoenix, Arizona, USA.
  • Kruglyak S; Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, Arizona, USA.
  • Huentelman M; Neurogenomics Division, Translational Genomics Research Institute, Phoenix, Arizona, USA.
  • Narayanan V; Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, Arizona, USA.
Clin Genet ; 106(1): 114-115, 2024 Jul.
Article em En | MEDLINE | ID: mdl-38715525
ABSTRACT
FGF12 related epilepsy presents with variable phenotypes. We report another patient with a duplication involving the FGF12 gene who presented similar to other published cases having normal early development and responded to phenytoin.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Epilepsia / Variações do Número de Cópias de DNA / Fatores de Crescimento de Fibroblastos Limite: Female / Humans / Male Idioma: En Revista: Clin Genet Ano de publicação: 2024 Tipo de documento: Article País de afiliação: Estados Unidos
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Epilepsia / Variações do Número de Cópias de DNA / Fatores de Crescimento de Fibroblastos Limite: Female / Humans / Male Idioma: En Revista: Clin Genet Ano de publicação: 2024 Tipo de documento: Article País de afiliação: Estados Unidos