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PAK1 c.1409 T > a (p. Leu470Gln) de novo variant affects the protein kinase domain, leading to epilepsy, macrocephaly, spastic quadriplegia, and hydrocephalus: Case report and review of the literature.
Corriveau, Melina L; Amaya, Sabrina I; Koebel, Mary Clare; Lerma, Vanesa C; Michener, Sydney L; Turner, Alicia; Schultz, Rebecca J; Seto, Elaine S; Diaz-Medina, Gloria E; Craigen, William J; Swann, John W; Xue, Mingshan; Chao, Hsiao-Tuan.
Affiliation
  • Corriveau ML; The Cain Foundation Laboratories, Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, Houston, Texas, USA.
  • Amaya SI; School of Medicine, Baylor College of Medicine, Houston, Texas, USA.
  • Koebel MC; The Cain Foundation Laboratories, Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, Houston, Texas, USA.
  • Lerma VC; School of Medicine, Baylor College of Medicine, Houston, Texas, USA.
  • Michener SL; The Cain Foundation Laboratories, Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, Houston, Texas, USA.
  • Turner A; Augustana College, Rock Island, Illinois, USA.
  • Schultz RJ; Summer Undergraduate Research Training (SMART) Program, Baylor College of Medicine, Houston, Texas, USA.
  • Seto ES; The Cain Foundation Laboratories, Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, Houston, Texas, USA.
  • Diaz-Medina GE; Division of Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA.
  • Craigen WJ; The Cain Foundation Laboratories, Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, Houston, Texas, USA.
  • Swann JW; Division of Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA.
  • Xue M; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Chao HT; Division of Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA.
Am J Med Genet A ; 191(6): 1619-1625, 2023 06.
Article in En | MEDLINE | ID: mdl-36905087
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Epilepsy / Megalencephaly / Hydrocephalus / Intellectual Disability Type of study: Diagnostic_studies / Prognostic_studies Limits: Adolescent / Humans / Male Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2023 Document type: Article Affiliation country: Estados Unidos
Fulltext
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Print
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Epilepsy / Megalencephaly / Hydrocephalus / Intellectual Disability Type of study: Diagnostic_studies / Prognostic_studies Limits: Adolescent / Humans / Male Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2023 Document type: Article Affiliation country: Estados Unidos