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Expanding clinical phenotype in CACNA1C related disorders: From neonatal onset severe epileptic encephalopathy to late-onset epilepsy.
Bozarth, Xiuhua; Dines, Jennifer N; Cong, Qian; Mirzaa, Ghayda M; Foss, Kimberly; Lawrence Merritt, J; Thies, Jenny; Mefford, Heather C; Novotny, Edward.
Afiliação
  • Bozarth X; Division of Pediatric Neurology, Department of Neurology, University of Washington, Seattle, Washington.
  • Dines JN; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington.
  • Cong Q; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington.
  • Mirzaa GM; Division of Medical Genetics, Department of Internal Medicine, University of Washington, Seattle, Washington.
  • Foss K; Department of Biochemistry and Institution for Protein Design, University of Washington, Seattle, Washington.
  • Lawrence Merritt J; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington.
  • Thies J; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington.
  • Mefford HC; Division of Genetic Medicine, Seattle Children's Hospital, Seattle, Washington.
  • Novotny E; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington.
Am J Med Genet A ; 176(12): 2733-2739, 2018 12.
Article em En | MEDLINE | ID: mdl-30513141
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fenótipo / Canais de Cálcio Tipo L / Estudos de Associação Genética / Mutação Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Humans / Newborn Idioma: En Revista: Am J Med Genet A Assunto da revista: GENETICA MEDICA Ano de publicação: 2018 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fenótipo / Canais de Cálcio Tipo L / Estudos de Associação Genética / Mutação Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Humans / Newborn Idioma: En Revista: Am J Med Genet A Assunto da revista: GENETICA MEDICA Ano de publicação: 2018 Tipo de documento: Article