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.

Autor: Corriveau ML; The Cain Foundation Laboratories, Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, Houston, Texas, USA.; School of Medicine, Baylor College of Medicine, Houston, Texas, USA., Amaya SI; The Cain Foundation Laboratories, Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, Houston, Texas, USA.; 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.; Augustana College, Rock Island, Illinois, USA.; Summer Undergraduate Research Training (SMART) Program, Baylor College of Medicine, Houston, Texas, USA., Lerma VC; The Cain Foundation Laboratories, Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, Houston, Texas, USA.; Division of Neurology and Developmental Neuroscience, Department of Pediatrics, 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.; Division of Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA., Turner A; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Schultz RJ; Division of Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA.; Texas Woman's University, Houston, Texas, USA., Seto ES; Division of Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA., Diaz-Medina GE; Division of Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA., Craigen WJ; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA., Swann JW; The Cain Foundation Laboratories, Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, Houston, Texas, USA.; Division of Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA.; Department of Neuroscience, Baylor College of Medicine, Houston, Texas, USA., Xue M; The Cain Foundation Laboratories, Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, Houston, Texas, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Department of Neuroscience, Baylor College of Medicine, Houston, Texas, USA., Chao HT; The Cain Foundation Laboratories, Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, Houston, Texas, USA.; Division of Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA.; Department of Neuroscience, Baylor College of Medicine, Houston, Texas, USA.; McNair Medical Institute, The Robert and Janice McNair Foundation, Houston, Texas, USA.

Publikováno v: American journal of medical genetics. Part A [Am J Med Genet A] 2023 Jun; Vol. 191 (6), pp. 1619-1625. Date of Electronic Publication: 2023 Mar 10.